Partly Mapped Human Disease Genes
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Partly mapped human disease genes
Using the table and the Genome Browser to match inherited disease with gene
How the table was made
How the table will be used
How the table will be validated
How the table will be kept current
Quality control: checks that were run

Partly mapped human disease genes

12 Dec 00 webmaster research in conjunction with Jim Kent's UCSC Genome Browser and Johns Hopkins' OMIM
omim
258501
231550
200500
216900
200990
154400
602875
194071
300310
225750
304050
300700
103581
309600
147061
203800
104310
602096
104500
301201
602433
105550
205100
602099
105580
218000
300268
301590
107250
107970
600996
602087
604400
604401
186580
208100
301830
301835
108725
108985
209850
304930
209901
209900
600151
600374
603650
602522
132800
213600
301845
601764
269700
125480
262000
110100
601649
112250
310460
600430
112500
113300
113721
600048
605365
600807
259450
314400
163950
601493
601154
602067
604145
604288
605362
600884
601494
600858
605244
212200
250250
115470
115650
601202
115660
156850
115665
116800
601286
116600
605387
212750
302500
601238
603284
603285
605388
601780
191181
604563
605260
302801
302801
118210
600882
601472
214400
601596
118400
214900
118600
118700
200150
118800
601042
300220
215500
604901
303400
119540
216550
120100
604940
304020
300085
603649
600624
604168
121700
217095
604403
604352
602066
121800
122000
602082
122470
310490
304110
123000
600593
123100
123270
304500
300030
300066
601316
603964
603622
604717
605192
600965
600965
601412
601412
601386
601386
603098
603678
603720
603010
602092
602092
604060
605428
600971
600971
605429
194380
600795
600795
125420
125420
603165
300136
601942
601208
601388
601318
601666
603266
600320
601941
600321
600089
600089
603694
601410
112250
188400
188400
108120
601680
604356
126800
223900
223900
105600
105600
224120
224120
127700
600202
600202
604254
605408
128235
602124
602124
602077
602077
602084
600631
600808
131400
131950
300088
600669
604827
254770
601068
603204
600512
604364
300211
263400
600209
227220
602782
602476
602477
153640
305450
135300
135700
602078
604361
603358
109350
190100
601682
602429
602432
603383
600975
221820
601894
603965
138000
314300
138800
300273
141400
603388
309555
601800
266300
113900
602089
602390
604201
165320
114550
142380
142470
142335
601884
142669
300221
236100
306995
603218
604802
181600
231090
236680
147060
143870
605329
600740
603776
603813
604499
602491
145001
112410
603918
604329
307150
605201
605019
145981
602639
602014
307700
241410
605389
146550
146520
604780
601277
604777
604781
137100
600737
308350
266600
601458
604519
605225
147520
300048
147791
213300
244460
148370
308800
214300
148900
267750
150250
150270
604537
604232
220111
150800
253310
247640
602439
109543
159595
186860
603896
603543
164953
600919
153400
603517
114400
603075
153840
153880
273300
154275
600467
155600
309200
154705
155100
603855
603860
309300
300148
248300
155900
603663
603664
309510
300062
309610
300047
300077
309605
300114
304340
309585
300271
309549
300123
300210
309545
300115
300055
602685
300238
309620
309583
300243
300262
300261
300260
300263
309470
300218
251200
604317
604804
604321
156600
605013
251600
142993
309801
602481
300125
157700
601228
601471
604185
252350
191900
252500
253280
604801
602771
159000
159001
603511
254110
601846
160500
160500
603689
310460
160700
603221
602668
302350
600165
604387
602088
161950
162100
234200
604484
162400
605285
300278
603040
310700
164100
603188
602025
203310
300600
300650
164200
164280
145410
311050
605293
311200
119530
602966
600757
143850
300244
140600
165720
166600
259770
603045
311300
166800
167000
167250
600231
604809
602011
312000
604416
245000
168500
602404
168610
128200
301220
142680
170650
171300
600510
248310
600273
119500
176010
602085
601188
603688
601518
602759
300147
601844
145260
605232
604316
177900
602723
601454
603935
605364
178300
300245
179450
600964
233100
309500
601251
180020
221900
180105
600059
601414
602594
300155
602772
312612
180104
601499
600332
300258
252930
181405
181430
181460
603175
604906
603342
181510
600850
603176
605419
603013
269500
210600
602450
300209
210250
182280
102200
604187
604360
604805
605280
605229
300266
182600
270800
600363
603563
601162
602081
158590
600794
300021
600175
604320
605259
603516
604432
605361
600224
271245
313350
153900
600110
603786
185900
601744
300228
135750
313850
188025
603386
275220
600334
106700
137580
190300
601606
300259
313000
236730
605242
601067
602097
276902
602083
276905
239100
604772
133780
193235
193300
600193
311510
604454
314580
194090
601363
604928
300076
278250
gene
MGA3
AAAS
ACHP
RMCH
ACLS
AFD1
AMDM
MTACR1
AGMX2
AGS1
AIC
ADFN
AHO2
AHDS
IGES
ALSS
AD2
AD5
AIH2
AIH3
ALS4
ALSFTD
ALS2
ALS5
ANC
ACCPN
HAEX
ANOP1
ASMD
ARVD1
AVRD2
ARVD4
ARVD5
ARVD6
ACUG
AMCN1
AMCX1
ARTS
ATHS
AA
AUT
IPEX
BBS1
BBS2
BBS3
BBS4
BBS5
BSND
MSSE
BGCI
BZX
BFIC
BSCL
BPAD
BJS
BPES
BPES2
BDMF
MYP1
BDMR
BDA1
BDE
BCPR
BRCA3
BRCA4
BHR1
BRKS
CVD1
NS1
CMD1C
CMD1E
CMD1F
CMD1G
CMD1H
CMD1J
CMD1B
CMPD2
CMH6
CNC2
CNSN
CHH
CECR
CTAA1
CTAA2
CCA1
CATM
CCV
CTM
PCC
CPP
CTPP3
GSE
CLA2
ATCAY
CCM2
CCM3
ACP
CLN6
ST3
CMT4B2
CMT4F
CMTX2
CMTX2
CMT2A
CMT2B
CMT2D
CMT4A
CMTND
CRBM
CHLS
CCAL1
BCH
CHAC
PNKD
CSE
CAMR
CACD
CIRH1A
CPX
CPX
COH1
FCU
HNPCC7
COD1
COD2
CORD7
CORD1
CCFDN
CHED
CTHM
FEB3
FEB4
ICCA
SCCD
PPCD
CDB2
CDL
NAMSD
CFND
CMDJ
CRSA
CRS
CKBE
DFN2
DFN4
DFN6
DFNA10
DFNA16
DFNA17
DFNA20
DFNA23
DFNA6
DFNA6
DFNA7
DFNA7
DFNB12
DFNB12
DFNB13
DFNB14
DFNB16
DFNB17
DFNB18
DFNB18
DFNB20
DFNB26
DFNB6
DFNB6
DFNM1
DHS
DMT1
DMT1
DTDP2
DTDP2
ATOD
IDDMX
IDDM10
IDDM11
IDDM12
IDDM13
IDDM15
IDDM17
IDDM5
IDDM6
IDDM7
PBCA
PBCA
NIDDM3
TNDM
DMSMFH
DGCR
DGCR
AMCD1
DA2B
DURS2
DURS1
DYS
DYS
CDAN3
CDAN3
CDAN1
CDAN1
DYX1
DYX2
DYX2
DYX3
DYT11
DYT12
DYT7
DYT7
EEC2
EEC2
DEC
ENUR1
ENUR2
EOS
EBS1
EFMR
EGI
EJM2
EJM1
MEBA
ENFL2
EPT
FPEVF
EMWX
ECB2
EXT3
EYCL3
HJCD
FEB1
FEB2
FTNS
FGS1
GF1
FEOM1
FEOM2
FEOM3
FLNMS
GER
GSM1
GLC1C
GLC1D
GLC1E
GLC1F
GLC3B
GPSC
GFND
FSGS2
VMGLOM
TKCR
MNG1
MNG2
GHS
GRD2
GUST
HCL3
HCL2
HB1
HCI
HFE2
SM2
LCO
HVBS1
HVBS6
HPFH
HPFH2
HBM
BHD
HDPA
HPE1
HMS1
HLN1
HLN2
TYS
HYDM
HLS
HIES
HCA
HCA2
HHC3
FH3
FHCB1
HYPLIP2
HYPLIP1
HRPT2
HTNB
HYT1
HYT2
HTC2
HYALP
FHBL2
HHC2
HYD2
HOMG
HPT
HRD
HTS
MUHH
HTSS
IECN2
ICR2B
LI3
INLNE
IGAD1
IBM2
ISSX
IBD1
IBD2
IBD3
IBD7
ITPA
IPOX
JBS
JBTS1
KCS
KWE
KFSD
KFS
SGM1
KNO
LRS1
LAP
LCA5
LCA3
LSFC
MCL
LCCS
LALL
AMLCR2
D13S25
TAM
TCL4
LVWM
LMS
LPSA
LQT4
LD
BCL10
LCFS2
ARMD1
VMD1
MDDC
MGCT
MHS2
MHS4
CMM
MAFD2
MFS2
MHA
CFM1
MCKD2
MGC1
MEHMO
MDM
MROS
MHW1
MHW2
PRTS
MRX14
PRS
MRX20
MRX29
MCS
MRX49
PGS
WTS
MRX72
MRX9
MRGH
MRX58
MRXA
MRX50
PPMX
MRST
SMRXS
MRSD
SRS
MRSA
MRXSAB
MRXSA
MRXSL
MRXSSD
SHS
MRXS7
MCPH1
MCPH2
MCPH3
MCPH4
MCOR
MHAC
MCOP
CHX10
MLS
MHP2
MFTS
MVP
MPSH
MBS2
MBS3
MYMY
MWS
GNPTA
MEB
MDC1B
RSMD1
LGMD1A
LGMD1B
LGMD1D
LGMD2H
MDRV
MPD1
MPD1
MPRM
MYP1
MYP2
MYP3
DM2
NHS
NNO1
NPHP3
NPHP2
IGAN
NAPB
NBIA1
HMSNO
HSN1
NMSR
CSNB1
TSG11
NYS1
NYS2
OB10
OQTL
OA3
AIED
OASD
ODDD
ODED
OGS2
OPA2
OPA4
OFD1
OFC1
OFC2
OFC3
OHDS
ODPF
OADIP
OASF
OPTA2
OPPG
LOH18CR1
OPD1
OTS
ST8
PDB
PPKB
PBLT
ST11
PHP
PAPAS
PALS
PFM
PARK3
PPND
PKC
PDR
FPF
JPD
PCHC
GPDS1
PFBI
PKDTS
PPS
PORC
PAPA2
ST12
PCBC
PRCA1
PCAP
HPCX
PHA2B
PHA2A
PHA2C
PSORS5
PSORS1
PSORS2
PSORS3
PSORS4
PSORS6
PTOS1
PTOS2
RWS
RDPA
GLYS1
RENS1
RCD2
RCD1
RNANC
RP10
RP13
RP18
RP22
RP24
RP25
RP6
RP9
RIEG2
RMD1
RFMN
MPS3C
SPSMA
SPPM
SM1
SCZD5
SCZD9
SCZD2
SCZD1
SCZD4
SCZD7
SCZD10
SCZD6
SOST
SCKL
SCIDA
SGBS2
STSL
SCLC1
SMTPHN
SPG10
SPG11
SPG12
SPG13
SPG14
SPG15
SPG3A
SPG5A
SPG6
SPG8
SPG9
SPCH1
SMA4
SMAD1
SMAX2
SMAL
SMARD1
SCA13
SCA10
SCA11
SCA14
SCA5
IOSCA
SHFM2
STGD2
STGD3
STGD4
SDTY1
SLEB1
TGCT1
TMIP
THAS
TCPT
TCO
THM
TMD
TAPVR1
GTS
ETM1
MFT
MTBS
VSPA
UFS
USH1C
USH1D
USH1E
USH3
USH1F
USH2B
VBCH
VTSIP
EVR1
VRNI
VHL
WS2B
WSN
WDM
WWS
WT3
WT4
WFS2
INDX
WSS
chr range
19q13.2-q13.3
12q13
7q36
2p11.2-q12
12p13.3-p11.2
9q32
9p13-p12
11p15.5
Xp22
3p21
Xp22
Xq26.3-q27.1
15q11-q13
Xq21
5q31.1
2p14-p13
19cen-q13.2
12p11.23-q13.12
4q11-q21
Xq22-q28
9q34
9q21-q22
2q33-q35
15q15.1-q21.1
11q22-qter
15q13-q15
X
Xq27-q28
4q28-q31
14q23-q24
1q42-q43
2q32.1-q32.3
3p23
10p14-p12
16p12-q21
5q35
Xp11.3-q11.2
Xq21.22-q24
19p13.3-p13.2
11p15
7q
Xp11.23-q21.1
11q13
16q21
3p13-p12
15q22.3-q23
2q31
1p31
9q31
14q
Xq24-q27
19q
9q34
18p
2q34-q36
3q22-q23
7p21-p13
9p22-p21
Xq28
2q37
2q35-q36
2q37
17p13.3
11q23
13q21
5q31-q33
17p12
Xq28
12q24
10q21-q23
3p25-p22
6q23
2q31
2q14-q22
6q23-q24
9q13
1q32
7q3
2p16
18q21.3
9p13
22q11
14q24-qter
17p13
17q24
16p13.3
1pter-p36.13
16q22.1
2q33-q35
1pter-p36.1
20p12-q12
6p
Xp11.21-q21.3
19p13.3
7p15-p13
3q25.2-q27
9p12-q12
15q21-q23
11q13
11p15
19q13.1-q13.3
Xp22.2
Xp22.2
1p36-p35
3q13-q22
7p14
8q13-q21.1
5q23-q33
4p16.3
15q
5p
14q
9q21
2q33-q35
1p
Xp11.2
17p
16q22
Xq21.3
2q32
8q22-q23
1q44
15q21.1
Xp11.3
Xq27
6cen-q14
18q21.1-q21.3
18q23-qter
20p11.2-q11.2
22q11
2q23-q24
5q14-q15
16p12-q12
1p36-p34.1
20p11.2-q11.2
10q24
3q26.3
Xq24-q26.1
Xp22
5p15.2-p14.1
4p16
7p21.3-p21.2
14q32
Xq22
Xp21.2
Xp22
6q22.2-q23.3
2q23-q24.3
22q12.2-q13.3
17q25
14q21-q22
4p16.3
4p16.3
1q21-q23
1q21-q23
10q21-q22
10q21-q22
7q34-q36
7q31
15q21-q22
7q31
11p15.1-p14
11p15.1-p14
11q25-qter
4q31
3p21-p14
3p21-p14
1q24
16q23-q24
3p11.1-q11.2
3p11.1-q11.2
4q
4q
3q21
Xp11
10p11-q11
14q24.3-q31
2q33
2q34
6q21
10q25
6q24-q27
18q21
2q31
6
6
20q12-q13.1
6q24
9p22-p21
22q11
22q11
9p21-q21
11p15.5
2q31
8q13
9q31-q33
9q31-q33
15q21
15q21
15q15.1-q15.3
15q15.1-q15.3
15q21
6p21.3
6p21.3
2p16-p15
7q21
19q13
18p
18p
19
19
10q26
13q13-q14.3
12q13-q21
5q31-q33
8q24
Xq22
8q24
15q14
6p
8q23.3-q24.11
15q24
10q23.3-q24.1
22q11-q12
Xp22.3
11q23
19p
15q11-q15
11q25
8q13-q21
19p13.3
22q12.1-q13.2
Xq12-q21.31
2p21
12p11.2-q12
11q13.2
16q24.2-q24.3
2q33-q37
13q14
9q13-q21
3q21-q24
8q23
10
7q35-q36
1p36.2-p36.1
17q21-q22
1q32
11q21-q22
1p22-p21
Xq28
14q
Xp22
7p
20q13.11
Xq26
15q11-q15
4q28-q31
19q13.2-q13.3
5q31-q33
1q
6q22-q23
2q14-q21
11p14-p13
4q32.1
6q22.3-q23.1
7q36
11q12-q13
4q35
Xpter-p22.32
21q22.3
Xq28
20p
4p15.3
4q23
19q13.3-q13.4
11q23-q25
4q21
4q33-qter
1q23.3-q24
19q13
1p34.1-p32
15q25-q26
11p
1q21-q23
1q21-q32
12p12.2-p11.2
17q
15q
Xq24-q27.1
11q23.3
3p22-p21.1
19p13.3
16q12.1
9q12-q22.2
Xq26-q27
1q42-q43
18p11.32-p11.23
8p21
6p21.3
3p21
2q33-q35
19p12-q12
19p13.2-p13.1
6p21.3
9p1-q1
Xp22.1-p21.3
16p12-q13
12p13.2-q24.1
6p
1p36
20p
Xq28
11q23
9q34.3
1q42-q43
8p23-p22
Xp22.2-p22.13
5q11.2
8q22.2
21q22.3
3p21.1-p14.1
6p21.3-p21.2
6q11-q16
14q24
2
18p11.32
9q34
9p22-p21
16q22
13q14
21q11.2
2q34
3q27
3q27
19p13.2-q13.3
4q25-q27
16q24.3
1p22
18q11-q12
1q25-q31
8q24
7p21-p15
12q22
17q11.2-q24
3q13.1
1p36
Xq28
3p25-p24.2
22q12.3-q13.1
19q13.2-q13.4
16p12
Xq21.3-q22
Xp22.13-p21.1
8qter
9p11
4p
4q
Xp22.2-p22.1
Xp11.3-q13.3
Xp11-q21
Xp11-q21
Xp22.3-p21.3
Xq13-q22
Xp22.3
Xq25-q27
Xp21.1-q22
Xq28
Xp21-q13
Xq24-q27.1
Xp22-q12
Xp11
Xp11.3-p11.21
Xq28
15q24
Xq26-q27
Xq28
Xp21
Xq24-q27.3
Xq13.2
Xq28
Xq28
Xp11.3-q21.3
Xp11-q21.3
Xp11.3-q22
8pter-p22
19q13.1-q13.2
9q34
15q15-q21
13q31-q32
16p13.3-p12.1
14q32
14q24.3
Xp22.31
1q21-q23
Xq
16p12.1-p11.2
6q
3q21-q22
10q21.3-q22.1
3p26-p24.2
1q44
4q21-q23
1p34-p32
1q42
1p36-p35
5q31
1q11-q21
7q
9q31-q34.1
19p13.3
14q
14q
2q24-q31
Xq28
18p11.31
12q21-q23
3q
Xp22.3-p21.1
11p
3q22
9q22-q31
6q22-q23
17q25
20p13-p12.3
3q13.1
9q22.1-q22.3
10q23.2
Xp11.4
11q23
Xq26-q27
6p12
10p
20q13.11-q13.2
6q13-q15
Xp11.4-p11.23
Xp22.3
6q22-q24
2p24-p23
22q11.2
Xp11.4-p11.21
18q12.2-q12.3
Xp22.3-p22.2
6p24.3
2p13
19q13
18q
Xq27.3-q28
2q12-q13
11q
1p21
11q12-q13
18q21-q22
Xq28
15q26.1-qter
6q26-q27
6p21.3
12q11-q13
6p21.3
3p25
Xq25-q26
15q24-q26.1
11q14
11p12-p11.12
2p13
17q21
16p11.2-q12.1
Xp22-p21
12p13
4q11-q13
1p
7q35-q36
5q31-q33
16p13.3
1q32
11q23.1
13q21-q32
10pter-q11
1p36
1q24-q25
1q42.2-q43
Xq27-q28
17q21-q22
1q31-q42
12p13
3q21
6p21.3
17q
4q
1cen-q21
19p13
1p34.1-p32
Xq24-q27.1
6p21.3
10pter-p11.2
6p21.3
Xp11.4-p11.2
17p
6q25-q26
10q21
7q31-q35
17p13.3
1p13-q23
16p12.3-p12.1
Xq26-q27
6q14-q21
Xp21.3-p21.2
7p15.1-p13
13q14
1q41
X
14
12q24.1-q24.31
12q13.3-q15
5q31-q33
6q13-q26
1q21-q22
11q14-q21
5q11.2-q13.3
22q11-q13
13q32
15q15
8p21
17q12-q21
3q22.1-q24
10p
Xp22
2p21
3p23-p21
11q13
12q13
15q13-q15
19q13
2q24
3q27-q28
Xq11.2
14q11.2-q24.3
8p12-q13
15q11.1
8q23-q24
10q23.3-q24.1
7q31
12q24
7p
Xp
12q23-q24
11q13-q21
19q13.3-q13.4
22q13
15q14-q21.3
19q13.4-qter
11p11-q11
10q24
Xq26
13q34
6cen-q14
4p
2q34-q36
1q41-q42
Xq27
14q13
Xq25-q26.1
11q23
19p13.2
8q24.1
2q31
4p13-q12
11q23
3q13
9p21
Xq
Xp22.33
10q23-q24
11p15.1
10q
21q21
3q21-q25
10
3p24.2-p23
17q11.2
1q42-q43
11q13-q23
11q13
3p26-p25
1p21-p13.3
Xq28
2p13
Xq13-q21
16q
17q12-q21
4q22-q24
Xq26-qter
2q32
chr
19
12
7
2
12
9
9
11
X
3
X
X
15
X
5
2
19
12
4
X
9
9
2
15
11
15
X
X
4
14
1
2
3
10
16
5
X
X
19
11
7
X
11
16
3
15
2
1
9
14
X
19
9
18
2
3
7
9
X
2
2
2
17
11
7
5
17
X
12
10
3
6
2
2
6
9
1
7
2
18
9
22
14
17
17
16
1
16
2
1
20
6
X
19
7
3
9
15
11
11
19
X
X
1
3
7
8
5
4
15
5
14
9
2
1
X
17
16
X
2
8
1
15
X
X
6
18
18
20
22
2
5
16
1
20
10
3
X
X
5
4
7
14
X
X
X
6
2
22
17
14
4
4
1
1
10
10
7
7
15
7
11
11
11
4
3
3
1
16
3
3
4
4
3
X
10
14
2
2
6
10
6
18
2
6
6
20
6
9
22
22
9
11
2
8
9
9
15
15
15
15
15
6
6
2
7
19
18
18
19
19
10
13
12
5
8
X
8
15
6
8
15
10
22
X
11
19
15
11
8
19
22
X
2
12
11
16
2
13
9
3
8
10
7
1
17
1
11
1
X
14
X
7
20
X
15
4
19
5
1
6
2
11
4
6
7
11
4
X
21
X
20
4
4
19
11
4
4
1
19
1
15
11
1
1
12
17
15
X
11
3
19
16
9
X
1
18
8
6
3
2
19
19
6
9
X
16
12
6
1
20
X
11
9
1
8
X
5
8
21
3
6
6
14
2
18
9
9
16
13
21
2
3
3
19
4
16
1
18
1
8
7
12
17
3
1
X
3
22
19
16
X
X
8
9
4
4
X
X
X
X
X
X
X
X
X
X
X
X
X
X
X
X
15
X
X
X
X
X
X
X
X
X
X
8
19
9
15
13
16
14
14
X
1
X
16
6
3
10
3
1
4
1
1
1
5
1
7
9
19
14
14
2
X
18
12
3
X
11
3
9
6
17
20
3
9
10
X
11
X
6
10
20
6
X
X
6
2
22
X
18
X
6
2
19
18
X
2
11
1
11
18
X
15
6
6
12
6
3
X
15
11
11
2
17
16
X
12
4
1
7
5
16
1
11
13
10
1
1
1
X
17
1
12
3
6
17
4
1
19
1
X
6
10
6
X
17
6
10
7
17
1
16
X
6
X
7
13
1
X
14
12
12
5
6
1
11
5
22
13
15
8
17
3
10
X
2
3
11
12
15
19
2
3
X
14
8
15
8
10
7
12
7
X
12
11
19
22
15
19
11
10
X
13
6
4
2
1
X
14
X
11
19
8
2
4
11
3
9
X
X
10
11
10
21
3
10
3
17
1
11
11
3
1
X
2
X
16
17
4
X
2
start
q13.2
q13
q36
p11.2
p13.3
q32
p13
p15.5
p22
p21
p22
q26.3
q11
q21
q31.1
p14
cen
p11.23
q11
q22
q34
q21
q33
q15.1
q22
q13
-
q27
q28
q23
q42
q32.1
p23
p14
p12
q35
p11.3
q21.22
p13.3
p15
q
p11.23
q13
q21
p13
q22.3
q31
p31
q31
q
q24
q
q34
p
q34
q22
p21
p22
q28
q37
q35
q37
p13.3
q23
q21
q31
p12
q28
q24
q21
p25
q23
q31
q22
q24
q13
q32
q3
p16
q21.3
p13
q11
q24
p13
q24
p13.3
pter
q22.1
q35
pter
q12
p
q21.3
p13.3
p13
q27
q12
q21
q13
p15
q13.3
p22.2
p22.2
p36
q13
p14
q13
q23
p16.3
q
p
q
q21
q33
p
p11.2
p
q22
q21.3
q32
q22
q44
q21.1
p11.3
q27
cen
q21.1
q23
p11.2
q11
q23
q14
p12
p36
p11.2
q24
q26.3
q24
p22
p15.2
p16
p21.3
q32
q22
p21.2
p22
q22.2
q23
q12.2
q25
q21
p16.3
p16.3
q21
q21
q21
q21
q34
q31
q21
q31
p15.1
p15.1
q25
q31
p21
p21
q24
q23
p11.1
p11.1
q
q
q21
p11
p11
q24.3
q33
q34
q21
q25
q24
q21
q31
-
-
q12
q24
p22
q11
q11
p21
p15.5
q31
q13
q31
q31
q21
q21
q15.1
q15.1
q21
p21.3
p21.3
p16
q21
q13
p
p
-
-
q26
q13
q13
q31
q24
q22
q24
q14
p
q23.3
q24
q23.3
q11
p22.3
q23
p
q11
q25
q13
p13.3
q12.1
q12
p21
p11.2
q13.2
q24.2
q33
q14
q13
q21
q23
-
q35
p36.2
q21
q32
q21
p22
q28
q
p22
p
q13.11
q26
q11
q28
q13.2
q31
q
q22
q14
p14
q32.1
q22.3
q36
q12
q35
pter
q22.3
q28
p
p15.3
q23
q13.3
q23
q21
q33
q23.3
q13
p34.1
q25
p
q21
q21
p12.2
q
q
q24
q23.3
p22
p13.3
q12.1
q12
q26
q42
p11.32
p21
p21.3
p21
q33
p12
p13.2
p21.3
p1
p22.1
p12
p13.2
p
p36
p
q28
q23
q34.3
q42
p23
p22.2
q11.2
q22.2
q22.3
p21.1
p21.3
q11
q24
-
p11.32
q34
p22
q22
q14
q11.2
q34
q27
q27
p13.2
q25
q24.3
p22
q11
q25
q24
p21
q22
q11.2
q13.1
p36
q28
p25
q12.3
q13.2
p12
q21.3
p22.13
qter
p11
p
q
p22.2
p11.3
p11
p11
p22.3
q13
p22.3
q25
p21.1
q28
p21
q24
p22
p11
p11.3
q28
q24
q26
q28
p21
q24
q13.2
q28
q28
p11.3
p11
p11.3
pter
q13.1
q34
q15
q31
p13.3
q32
q24.3
p22.31
q21
q
p12.1
q
q21
q21.3
p26
q44
q21
p34
q42
p36
q31
q11
q
q31
p13.3
q
q
q24
q28
p11.31
q21
q
p22.3
p
q22
q22
q22
q25
p13
q13.1
q22.1
q23.2
p11.4
q23
q26
p12
p
q13.11
q13
p11.4
p22.3
q22
p24
q11.2
p11.4
q12.2
p22.3
p24.3
p13
q13
q
q27.3
q12
q
p21
q12
q21
q28
q26.1
q26
p21.3
q11
p21.3
p25
q25
q24
q14
p12
p13
q21
p11.2
p22
p13
q11
p
q35
q31
p13.3
q32
q23.1
q21
pter
p36
q24
q42.2
q27
q21
q31
p13
q21
p21.3
q
q
cen
p13
p34.1
q24
p21.3
pter
p21.3
p11.4
p
q25
q21
q31
p13.3
p13
p12.3
q26
q14
p21.3
p15.1
q14
q41
-
-
q24.1
q13.3
q31
q13
q21
q14
q11.2
q11
q32
q15
p21
q12
q22.1
p
p22
p21
p23
q13
q13
q13
q13
q24
q27
q11.2
q11.2
p12
q11.1
q23
q23.3
q31
q24
p
p
q23
q13
q13.3
q13
q14
q13.4
p11
q24
q26
q34
cen
p
q34
q41
q27
q13
q25
q23
p13.2
q24.1
q31
p13
q23
q13
p21
q
p22.33
q23
p15.1
q
q21
q21
-
p24.2
q11.2
q42
q13
q13
p26
p21
q28
p13
q13
q
q12
q22
q26
q32
stop
q13.3
-
-
q12
p11.2
-
p12
-
-
-
-
q27.1
q13
-
-
p13
q13.2
q13.12
q21
q28
-
q22
q35
q21.1
qter
q15
-
q28
q31
q24
q43
q32.3
-
p12
q21
-
q11.2
q24
p13.2
-
-
q21.1
-
-
p12
q23
-
-
-
-
q27
-
-
-
q36
q23
p13
p21
-
-
q36
-
-
-
-
q33
-
-
-
q23
p22
-
-
q22
q24
-
-
-
-
-
-
-
qter
-
-
-
p36.13
-
q35
p36.1
q12
-
q21.3
-
p13
q27
q12
q23
-
-
q13.3
-
-
p35
q22
-
q21.1
q33
-
-
-
-
-
q35
-
-
-
-
-
-
q23
-
-
-
-
q14
q21.3
qter
q11.2
-
q24
q15
q12
p34.1
q11.2
-
-
q26.1
-
p14.1
-
p21.2
-
-
-
-
q23.3
q24.3
q13.3
-
q22
-
-
q23
q23
q22
q22
q36
-
q22
-
p14
p14
qter
-
p14
p14
-
q24
q11.2
q11.2
-
-
-
-
q11
q31
-
-
-
-
q27
-
-
-
-
q13.1
-
p21
-
-
q21
-
-
-
q33
q33
-
-
q15.3
q15.3
-
-
-
p15
-
-
-
-
-
-
-
q14.3
q21
q33
-
-
-
-
-
q24.11
-
q24.1
q12
-
-
-
q15
-
q21
-
q13.2
q21.31
-
q12
-
q24.3
q37
-
q21
q24
-
-
q36
p36.1
q22
-
q22
p21
-
-
-
-
-
-
q15
q31
q13.3
q33
-
q23
q21
p13
-
q23.1
-
q13
-
p22.32
-
-
-
-
-
q13.4
q25
-
qter
q24
-
p32
q26
-
q23
q32
p11.2
-
-
q27.1
-
p21.1
-
-
q22.2
q27
q43
p11.23
-
-
-
q35
q12
p13.1
-
q1
p21.3
q13
q24.1
-
-
-
-
-
-
q43
p22
p22.13
-
-
-
p14.1
p21.2
q16
-
-
-
-
p21
-
-
-
-
-
-
q13.3
q27
-
-
q12
q31
-
p15
-
q24
-
-
-
p24.2
q13.1
q13.4
-
q22
p21.1
-
-
-
-
p22.1
q13.3
q21
q21
p21.3
q22
-
q27
q22
-
q13
q27.1
q12
-
p11.21
-
-
q27
-
-
q27.3
-
-
-
q21.3
q21.3
q22
p22
q13.2
-
q21
q32
p12.1
-
-
-
q23
-
p11.2
-
q22
q22.1
p24.2
-
q23
p32
-
p35
-
q21
-
q34.1
-
-
-
q31
-
-
q23
-
p21.1
-
-
q31
q23
-
p12.3
-
q22.3
-
-
-
q27
-
-
q13.2
q15
p11.23
-
q24
p23
-
p11.21
q12.3
p22.2
-
-
-
-
q28
q13
-
-
q13
q22
-
qter
q27
-
q13
-
-
q26
q26.1
-
p11.12
-
-
q12.1
p21
-
q13
-
q36
q33
-
-
-
q32
q11
-
q25
q43
q28
q22
q42
-
-
-
-
-
q21
-
p32
q27.1
-
p11.2
-
p11.2
-
q26
-
q35
-
q23
p12.1
q27
q21
p21.2
p13
-
-
-
-
q24.31
q15
q33
q26
q22
q21
q13.3
q13
-
-
-
q21
q24
-
-
-
p21
-
-
q15
-
-
q28
-
q24.3
q13
-
q24
q24.1
-
-
-
-
q24
q21
q13.4
-
q21.3
qter
q11
-
-
-
q14
-
q36
q42
-
-
q26.1
-
-
-
-
q12
-
-
-
-
-
q24
-
-
-
q25
-
p23
-
q43
q23
-
p25
p13.3
-
-
q21
-
q21
q24
qter
-
morbid_map_disease_name
3 methylglutaconicaciduria type III
Achalasia addisonianism alacrimia
Acheiropody
Achromatopsia
Acrocallosal syndrome
Acrofacial dysostosis Nager type
Acromesomelic dysplasia Maroteaux type
Adrenocortical carcinoma hereditary 202300
Agammaglobulinemia type 2
Aicardi Goutieres syndrome 1
Aicardi syndrome
Albinism deafness syndrome
Albright hereditary osteodystrophy 2
Allan Herndon syndrome
Allergy and asthma susceptibility
Alstrom syndrome
Alzheimer disease 2 late onset
Alzheimer disease 5
Amelogenesis imperfecta 2 hypoplastic local type
Amelogenesis imperfecta 3 hypoplastic type
Amyotrophic lateral sclerosis 4 juvenile dom
Amyotrophic lateral sclerosis ft dementia
Amyotrophic lateral sclerosis juvenile
Amytrophic lateral sclerosis 5
Anal canal carcinoma
Andermann syndrome
Angioneurotic edema hereditary
Anophthalmos 1
Anterior segment mesenchymal dysgenesis
Arrhythmogenic right ventricular dysplasia 1
Arrhythmogenic right ventricular dysplasia 2
Arrhythmogenic right ventricular dysplasia 4
Arrhythmogenic right ventricular dysplasia 5
Arrhythmogenic right ventricular dysplasia 6
Arthrocutaneouveal granulomatosis
Arthrogryposis multiplex congenita neurogenic
Arthrogryposis spinal muscular atrophy infantile
Arts syndrome
Atherosclerosis susceptibility to
Atrophia areata
Autism susceptibility to
Autoimmunity immunodeficiency syndrome
Bardet Biedl syndrome 1
Bardet Biedl syndrome 2
Bardet Biedl syndrome 3
Bardet Biedl syndrome 4
Bardet Biedl syndrome 5
Bartter syndrome infantile sensorineural deafness
Basal cell carcinoma
Basal ganglia calcification idiopathic
Bazex syndrome
Benign familial infantile convulsions
Berardinelli Seip congenital lipodystrophy
Bipolar affective disorder
Bjornstad syndrome
Blepharophimosis epicanthus inversus ptosis type 1
Blepharophimosis epicanthus inversus ptosis type 2
Bone dysplasia medullary fibrosarcoma
Bornholm eye disease
Brachydactyly mental retardation syndrome
Brachydactyly type A1
Brachydactyly type E
Breast cancer
Breast cancer 3
Breast cancer type 4
Bronchial asthma
Bruck syndrome
Cardiac valvular dysplasia 1
Cardiofaciocutaneous syndrome 115150
Cardiomyopathy dilated 1C
Cardiomyopathy dilated 1E
Cardiomyopathy dilated 1F
Cardiomyopathy dilated 1G
Cardiomyopathy dilated 1H
Cardiomyopathy dilated 1J
Cardiomyopathy familial dilated 1B
Cardiomyopathy familial dilated 2
Cardiomyopathy familial hypertrophic WPWh
Carney complex type II
Carnosinemia
Cartilage hair hypoplasia
Cat eye syndrome
Cataract anterior polar 1
Cataract anterior polar 2
Cataract cerulean type 1
Cataract congenital microphthalmia
Cataract congenital Volkmann type
Cataract Marner type
Cataract polymorphic congenital
Cataract posterior polar
Cataract posterior polar 3
Celiac disease
Cerebellar ataxia 2
Cerebellar ataxia Cayman type
Cerebral cavernous malformations 2
Cerebral cavernous malformations 3
Cerebral palsy ataxic autosomal recessive
Ceroid lipofuscinosis neuronal 6 late infantile
Cervical carcinoma
Charcot Marie Tooth disease type 4B form 2
Charcot Marie Tooth disease type 4F
Charcot Marie Tooth neuropathy
Charcot Marie Tooth neuropathy
Charcot Marie Tooth neuropathy 2A
Charcot Marie Tooth neuropathy 2B
Charcot Marie Tooth neuropathy 2D
Charcot Marie Tooth neuropathy 4A
Charcot Marie Tooth neuropathy demyelinating
Cherubism
Cholestasis lymphedema syndrome
Chondrocalcinosis early onset osteoarthritis
Chorea hereditary benign
Choreoacanthocytosis
Choreoathetosis familial paroxysmal
Choreoathetosis/spasticity episodic
Chorioathetosis with mental retardation ab behavior
Choroidal dystrophy central areolar
Cirrhosis North AmIndian childhood type
Cleft palate
Cleft palate isolated
Cohen syndrome
Cold urticaria familial
Colorectal cancer susceptibility to 2
Cone dystrophy progressive 1
Cone dystrophy progressive 2
Cone rod dystrophy 7
Cone rod retinal dystrophy 1
Congenital cataract facial dysmorphism neuropathy
Congenital hereditary endothelial dystrophy cornea
Conotruncal cardiac anomalies
Convulsions familial febrile 3
Convulsions familial febrile 4
Convulsions infantile and paroxysmal choreoathetosis
Corneal dystrophy crystalline Schnyder
Corneal dystrophy posterior polymorphous
Corneal dystrophy Thiel Behnke type
Cornelia de Lange syndrome
Cowchock syndrome
Craniofrontonasal dysplasia
Craniometaphyseal dysplasia
Craniosynostosis Adelaide type
Craniosynostosis type 1
Creatine kinase brain ectopic expression
Deafness 2 perceptive congenital
Deafness 4 congenital sensorineural
Deafness 6 sensorineural
Deafness autosomal dominant 10
Deafness autosomal dominant 16
Deafness autosomal dominant 17
Deafness autosomal dominant 20
Deafness autosomal dominant 23
Deafness autosomal dominant 6
Deafness autosomal dominant 6
Deafness autosomal dominant 7
Deafness autosomal dominant 7
Deafness autosomal recessive 12
Deafness autosomal recessive 12
Deafness autosomal recessive 13
Deafness autosomal recessive 14
Deafness autosomal recessive 16
Deafness autosomal recessive 17
Deafness autosomal recessive 18
Deafness autosomal recessive 18
Deafness autosomal recessive 20
Deafness autosomal recessive 26
Deafness autosomal recessive 6
Deafness autosomal recessive 6
Deafness nonsyndromic modifier 1
Dehydrated hereditary stomatocytosis
Dementia familial nonspecific
Dementia familial nonspecific
Dentin dysplasia type II
Dentin dysplasia type II
Dermatitis atopic
Diabetes mellitus insulin dependent
Diabetes mellitus insulin dependent 10
Diabetes mellitus insulin dependent 11
Diabetes mellitus insulin dependent 12
Diabetes mellitus insulin dependent 13
Diabetes mellitus insulin dependent 15
Diabetes mellitus insulin dependent 17
Diabetes mellitus insulin dependent 5
Diabetes mellitus insulin dependent 6
Diabetes mellitus insulin dependent 7
Diabetes mellitus insulin dependent neonatal
Diabetes mellitus insulin dependent neonatal
Diabetes mellitus noninsulin dependent 3
Diabetes mellitus transient neonatal
Diaphyseal medullary stenosis fibrous histiocytoma
DiGeorge syndrome
DiGeorge syndrome
Distal arthrogryposis 1
Distal arthrogryposis type 2B
Duane retraction syndrome 2
Duane syndrome
Dysautonomia familial
Dysautonomia familial
Dyserythropoietic anemia congenital type III
Dyserythropoietic anemia congenital type III
Dyserythropoietic anemia contenital type I
Dyserythropoietic anemia contenital type I
Dyslexia 1
Dyslexia specific 2
Dyslexia specific 2
Dyslexia specific 3
Dystonia 11 myoclonic
Dystonia 12
Dystonia 7 torsion
Dystonia 7 torsion
Ectrodactyly ectodermal dysplasia cleft lip/palate 2
Ectrodactyly ectodermal dysplasia cleft lip/palate 2
Endometrial carcinoma
Enuresis nocturnal 1
Enuresis nocturnal 2
Eosinophilia familial
Epidermolysis bullosa Ogna
Epilepsy female restricted mental retardation
Epilepsy generalized idiopathic
Epilepsy juvenile myoclonic
Epilepsy juvenile myoclonic
Epilepsy myoclonic benign adult familial
Epilepsy nocturnal frontal lobe type 2
Epilepsy partial
Epilepsy partial variable foci
Episodic muscle weakness
Erythrocytosis autosomal recessive benign
Exostoses multiple type 3
Eye color brown
Faisalabad histiocytosis
Febrile convulsions familial 1
Febrile convulsions familial 2
Fechtner syndrome
FG syndrome
Fibromatosis gingival
Fibrosis of extraocular muscles congenital 1
Fibrosis of extraocular muscles congenital 2
Fibrosis of extraocular muscles congenital 3
Finnish lethal neonatal metabolic syndrome
Gastroesophageal reflux
Geniospasm
Glaucoma 1C primary open angle
Glaucoma 1D primary open angle
Glaucoma 1E primary open angle adult onset
Glaucoma 1F
Glaucoma 3 primary infantile B
Gliosis familial progressive subcortical
Glomerulopathy fibronectin
Glomerulosclerosis focal segmental 2
Glomus tumors multiple
Goeminne TKCR syndrome
Goiter multinodular 1
Goiter multinodular 2
Goldenhar syndrome
Graves disease susceptibility to 2
Gustavson syndrome
Hair color brown
Hair color red
Heart block progressive familial type I
Hemangioma capillary infantile
Hemochromatosis type 2
Hepatic fibrosis susceptibility Schistosoma mansoni
Hepatocellular carcinoma
Hepatocellular carcinoma
Hepatocellular carcinoma
Hereditary persistence fetal hemoglobin heterocellular
Hereditary persistence fetal hemoglobin Indian
High bone mass
Hip dysplasia Beukes
Hodgkin disease susceptibility pseudoautosomal
Holoprosencephaly 1
Homosexuality male
Huntington like neurodegenerative disorder 1
Huntington like neurodegenerative disorder 2
Huriez syndrome
Hydatidiform mole
Hydrolethalus syndrome
Hyper IgE syndrome
Hypercalciuria absorptive
Hypercalciuria absorptive 2
Hypercalciuric hypercalcemia type III
Hypercholesterolemia familial 3
Hypercholesterolemia familial autosomal recessive
Hyperlipidemia combined 2
Hyperlipidemia familial combined 1
Hyperparathyroidism jaw tumor syndrome
Hypertension brachydactyly
Hypertension essential susceptibility to 1 145500
Hypertension essential susceptibility to 2
Hypertrichosis congenital generalized
Hypoalphalipoproteinemia primary
Hypobetalipoproteinemia familial 2
Hypocalciuric hypercalcemia type II
Hypodontia autosomal recessive
Hypomagnesemia secondary hypocalcemia
Hypoparathyroidism
Hypoparathyroidism retardation dysmorphism
Hypoptrichosis simplex
Hypotrichosis Marie Unna
Hypotrichosis simplex of scalp
Ichthyosiforme erythroderma nonbullous 2
Ichthyosis lamellar type 2
Ichthyosis lamellar type 3
Ichthyosis nonlamellar and nonerythrodermic
Immunoglobulin A deficiency
Inclusion body myopathy autosomal recessive
Infantile spasm syndrome
Inflammatory bowel disease 1
Inflammatory bowel disease 2
Inflammatory bowel disease 3
Inflammatory bowel disease 7
Inosine triphosphatase deficiency
Intestinal pseudoobstruction neuronal
Jacobsen syndrome
Joubert syndrome 1
Kenny Caffey syndrome 1
Keratolytic winter erythema
Keratosis follicularis spinulosa decalvans
Klippel Feil syndrome
Klippel Feil syndrome laryngeal malformation
Knobloch syndrome
Larsen syndrome autosomal dominant
Laryngeal adductor paralysis
Leber congenital amaurosis 5
Leber congenital amaurosis type III
Leigh syndrome French Canadian
Leiomyoma multiple hereditary cutaneous
Lethal congenital contracture syndrome
Leukemia acute lymphoblastic
Leukemia acute myelogenous
Leukemia chronic lymphocytic B cell
Leukemia transient of Down syndrome
Leukemia/lymphoma T cell
Leukoencephalopathy vanishing white matter
Limb mammary syndrome
Liposarcoma
Long QT syndrome 4 sinus bradycardia
Lymphedema distichiasis
Lymphoma follicular
Lynch cancer family syndrome II
Macular degeneration age related 1
Macular dystrophy atypical vitelliform
Macular dystrophy dominant cystoid
Male germ cell tumor
Malignant hyperthermia susceptibility 2
Malignant hyperthermia susceptibility 4
Malignant melanoma cutaneous
Manic depressive illness
Marfan like connective tissue disorder
May Hegglin anomaly
Meconium ileus in cystic fibrosis susceptibility
Medullary cystic kidney disease 2
Megalocornea
MEHMO syndrome
Meleda disease
Melkersson Rosenthal syndrome
Mental health wellness 1
Mental health wellness 2
Mental retardation 1 dystonic movements ataxia
Mental retardation 14
Mental retardation 2 dysmorphism cerebral atrophy
Mental retardation 20
Mental retardation 29
Mental retardation 4 contractures fingertip arches
Mental retardation 49
Mental retardation 5 Dandy Walker malformation
Mental retardation 6 gynecomastia and obesity
Mental retardation 72
Mental retardation 9
Mental retardation isolated growth hormone
Mental retardation nonspecific 58
Mental retardation nonspecific aphasia
Mental retardation nonspecific type 50
Mental retardation psychosis pyr macroorchidism
Mental retardation severe spasticity tapetoretinal
Mental retardation Shashi
Mental retardation skeletal dysplasia
Mental retardation Snyder Robinson
Mental retardation South African
Mental retardation syndrome Abidi
Mental retardation syndrome Armfield
Mental retardation syndrome Lubs
Mental retardation syndrome Siderius
Mental retardation syndromic 3 spastic diplegia
Mental retardation syndromic 7
Microcephaly autosomal recessive 1
Microcephaly autosomal recessive 2
Microcephaly primary autosomal recessive 3
Microcephaly primary autosomal recessive 4
Microcoria congenital
Microhydranencephaly
Microphthalmia autosomal recessive
Microphthalmia cataracts and iris abnormalities
Microphthalmia linear skin defects
Migraine familial hemiplegic 2
Migraine familial typical susceptibility to 1
Mitral valve prolapse familial
Mixed polyposis syndrome hereditary
Moebius syndrome 2
Moebius syndrome 3
Moyamoya disease
Muckle Wells syndrome
Mucolipidosis III
Muscle eye brain disease
Muscular dystrophy congenital 1B
Muscular dystrophy congenital spine rigidity
Muscular dystrophy limb girdle type 1A
Muscular dystrophy limb girdle type 1B
Muscular dystrophy limb girdle type 1D
Muscular dystrophy limb girdle type 2H
Muscular dystrophy rimmed vacuoles
Myopathy distal
Myopathy distal
Myopathy proximal early respiratory muscle
Myopia 1
Myopia 2
Myopia 3
Myotonic dystrophy 2
Nance Horan syndrome
Nanophthalmos 1
Nephronophthisis adolescent
Nephronophthisis infantile
Nephropathy IgA
Neuralgic amyotrophy predilection brachial plexus
Neurodegeneration brain iron accumulation
Neuropathy hereditary motor and sensory Okinawa
Neuropathy hereditary sensory and autonomic 1
Neuropathy motor and sensory Russe
Night blindness congenital stationary 1
Nonsmall cell lung cancer
Nystagmus 1 congenital
Nystagmus 2 autosomal dominant
Obesity susceptibility to 601665
Obesity/hyperinsulinism susceptibility to
Ocular albinism autosomal recessive
Ocular albinism Forsius Eriksson
Ocular albinism sensorineural deafness
Oculodentodigital dysplasia
Oculodigitoesophagoduodenal syndrome
Opitz G syndrome type II
Optic atrophy
Optic atrophy 4
Oral facial digital syndrome 1
Orofacial cleft 1
Orofacial cleft 2
Orofacial cleft 3
Orthostatic hypotensive disorder of Streeten
Osseous dysplasia digital facial pibmentary frenula
Osteoarthritis of distal interphalangeal joints
Osteoarthritis susceptibility female specific
Osteopetrosis AD type II
Osteoporosis pseudoglioma syndrome
Osteosarcoma 259500
Otopalatodigital syndrome type I
Otosclerosis
Ovarian cancer serous
Paget disease of bone
Palmoplantar keratoderma Bothnia
Panbronchiolitis diffuse
Pancreatic endocrine tumors
Panhypopituitarism
PAPA syndrome
Papillon Lefevre syndrome
Parietal foramina
Parkinson disease type 3
Parkinsonism dementia pallidopontonigral
Paroxysmal kinesigenic choreoathetosis
Partington syndrome II
Periodic fever familial
Periodontitis juvenile
Pheochromocytoma
Pigment dispersion syndrome
Plasmodium falciparum parasitemia intensity of
Polycystic kidney infantile tuberous sclerosis
Popliteal pterygium syndrome
Porphyria Chester
Postaxial polydactyly type A2
Prostate adenocarcinoma
Prostate cancer brain cancer susceptibility
Prostate cancer hereditary 1 176807
Prostate cancer hereditary 2 176807
Prostate cancer susceptibility
Pseudohypoaldosteronism II
Pseudohypoaldosteronism type II
Pseudohypoaldosteronism type IIC
Psoriasis susceptibility
Psoriasis susceptibility 1
Psoriasis susceptibility 2
Psoriasis susceptibility 3
Psoriasis susceptibility to
Psoriasis susceptibility to 177900
Ptosis hereditary congenital 1
Ptosis hereditary congenital 2
Ragweed sensitivity
Refsum disease adult pipecolicacidemia
Renal glucosuria
Renpenning syndrome 1
Retinal cone dsytrophy 2
Retinal cone dystrophy 1
Retinal nonattachment nonsyndromic congenital
Retinitis pigmentosa 10
Retinitis pigmentosa 13
Retinitis pigmentosa 18
Retinitis pigmentosa 22
Retinitis pigmentosa 24
Retinitis pigmentosa 25
Retinitis pigmentosa 6
Retinitis pigmentosa 9
Rieger syndrome type 2
Rippling muscle disease 1
Roifman syndrome
Sanfilippo syndrome type C
Scapuloperoneal spinal muscular atrophy New Eng
Scapuloperoneal syndrome myopathic
Schistosoma mansoni infection susceptibility
Schizophrenia 181500
Schizophrenia 181500
Schizophrenia 181500
Schizophrenia 181500
Schizophrenia 181500
Schizophrenia 181500
Schizophrenia 181500
Schizophrenia 181500
Sclerosteosis
Seckel sydnrome
Severe combined immunodeficiency Athabascan
Simpson Golabi Behmel syndrome type 2
Sitosterolemia
Small cell cancer of lung
Somatotrophinoma
Spastic paraplegia 10
Spastic paraplegia 11
Spastic paraplegia 12
Spastic paraplegia 13
Spastic paraplegia 14 autosomal recessive
Spastic paraplegia 15 complicated
Spastic paraplegia 3A
Spastic paraplegia 5A
Spastic paraplegia 6
Spastic paraplegia 8
Spastic paraplegia 9
Speech language disorder 1
Spinal muscular atrophy 4
Spinal muscular atrophy distal upper limb
Spinal muscular atrophy lethal infantile
Spinal muscular atrophy nonprogressive lower limbs
Spinal muscular atrophy respiratory distress 1
Spinocereballar ataxia 13
Spinocerebellar ataxia 10
Spinocerebellar ataxia 11
Spinocerebellar ataxia 14
Spinocerebellar ataxia 5
Spinocerebellar ataxia infantile onset sensory
Split hand/foot malformation type 2
Stargardt disease 2
Stargardt disease 3
Stargardt disease 4
Syndactyly type 1
Systemic lupus erythematosus susceptibility 1
Testicular germ cell tumor
Tetramelic mirror image polydactyly
Thoracoabdominal syndrome
Thrombocytopenia Paris Trousseau
Thyroid carcinoma nonmedullary cell oxyphilia
Tibial hemimelia
Tibial muscular dystrophy
Total anomalous pulmonary venous return
Tourette syndrome
Tremor familial essential 1
Trichoepithelioma multiple familial
Tuberculosis susceptibility
Turner syndrome associated neurocognitive
Urofacial syndrome
Usher syndrome type 1C 276904
Usher syndrome type 1D
Usher syndrome type 1E
Usher syndrome type 3
Usher syndrome type IF
Usher syndrome type IIB
Van Buchem disease
Ventricular tachycardia stress induced polymorphic
Vitreoretinopathy exudative familial
Vitreoretinopathy neovascular inflammatory
von Hippel Lindau syndrome
Waardenburg syndrome type 2B
Waisman parkinsonism mental retardation syndrome
Welander distal myopathy
Wieacker Wolff syndrome
Wilms tumor type 3
Wilms tumor type 4
Wolfram syndrome 2
Wood neuroimmunologic syndrome
Wrinkly skin syndrome

Quality control: checks that were run

12 Dec 00 webmaster
Check 1: A sort on the accession number revealed that 20 of 593 original entries were duplicated. The source of this problem was not traced -- it may ba a bug (or a perceived feature) in OMIM Morbid map, or an overlap on data extraction work sessions. At any rate, redundant entries were eliminated, leaving 573 entries with unique OMIM identifiers.
Which OMIM accession numbers were repeated?

602124 2 DYT7 18p Dystonia 7 torsion
602092 2 DFNB18 11p15.1-p14 Deafness autosomal recessive 18
602077 2 EEC2 19 Ectrodactyly ectodermal dysplasia cleft lip/palate 2
601412 2 DFNA7 1q21-q23 Deafness autosomal dominant 7
601386 2 DFNB12 10q21-q22 Deafness autosomal recessive 12
600971 2 DFNB6 3p21-p14 Deafness autosomal recessive 6
600965 2 DFNA6 4p16.3 Deafness autosomal dominant 6
600795 2 DMT1 3p11.1-q11.2 Dementia familial nonspecific
600202 2 DYX2 6p21.3 Dyslexia specific 2
600089 2 PBCA 6 Diabetes mellitus insulin dependent neonatal
310460 2 MYP1 Xq28 Bornholm eye disease
302801 2 CMTX2 Xp22.2 Charcot Marie Tooth neuropathy
224120 2 CDAN1 15q15.1-q15.3 Dyserythropoietic anemia contenital type I
223900 2 DYS 9q31-q33 Dysautonomia familial
188400 2 DGCR 22q11 DiGeorge syndrome
160500 2 MPD1 14q Myopathy distal
125420 2 DTDP2 4q Dentin dysplasia type II
112250 2 BDMF 9p22-p21 Bone dysplasia medullary fibrosarcoma
105600 2 CDAN3 15q21 Dyserythropoietic anemia congenital type III
Check 2: Some entries are barely mapped, perhaps no better than to a whole chromosome, long arm, or short arm of a large chromosome. While details of the OMIM entry or further research (if any) might narrow the gene location, the 53 entries are of questionable utility, being whole chromosome (8 entries), long arm q (23), or short arm p (22)
53 of the 573 entries are not mapped suitably for disease gene discovery:

omim	chr	morbid_map_disease_name
220111	2	Leigh syndrome French Canadian
600089	6	Diabetes mellitus insulin dependent neonatal
602432	10	Glaucoma 1E primary open angle adult onset
602083	10	Usher syndrome type IF
252930	14	Sanfilippo syndrome type C
602077	19	Ectrodactyly ectodermal dysplasia cleft lip/palate 2
300268	X	Angioneurotic edema hereditary
300258	X	Roifman syndrome
602390	1q	Hemochromatosis type 2
602668	3q	Myotonic dystrophy 2
603664	4q	Mental health wellness 2
601454	4q	Psoriasis susceptibility 3
125420	4q	Dentin dysplasia type II
601228	6q	Mixed polyposis syndrome hereditary
603511	7q	Muscular dystrophy limb girdle type 1D
209850	7q	Autism susceptibility to
601067	10q	Usher syndrome type 1D
165720	11q	Osteoarthritis susceptibility female specific
213600	14q	Basal ganglia calcification idiopathic
160500	14q	Myopathy distal
138800	14q	Goiter multinodular 1
118700	14q	Chorea hereditary benign
604329	15q	Hypertension essential susceptibility to 2
214900	15q	Cholestasis lymphedema syndrome
194090	16q	Wilms tumor type 3
603918	17q	Hypertension essential susceptibility to 1 145500
602723	17q	Psoriasis susceptibility 2
143850	18q	Orthostatic hypotensive disorder of Streeten
601764	19q	Benign familial infantile convulsions
300259	Xq	Tuberculosis susceptibility
300125	Xq	Migraine familial typical susceptibility to 1
601042	1p	Choreoathetosis/spasticity episodic
171300	1p	Pheochromocytoma
603786	4p	Stargardt disease 4
603663	4p	Mental health wellness 1
118600	5p	Chondrocalcinosis early onset osteoarthritis
604519	6p	Inflammatory bowel disease 3
254770	6p	Epilepsy juvenile myoclonic
212750	6p	Celiac disease
600794	7p	Spinal muscular atrophy distal upper limb
141400	7p	Goldenhar syndrome
603188	10p	Obesity susceptibility to 601665
602450	10p	Severe combined immunodeficiency Athabascan
604499	11p	Hyperlipidemia combined 2
600165	11p	Nanophthalmos 1
601251	17p	Retinal cone dsytrophy 2
215500	17p	Choroidal dystrophy central areolar
602124	18p	Dystonia 7 torsion
125480	18p	Bipolar affective disorder
600209	19p	Exostoses multiple type 3
603218	20p	Huntington like neurodegenerative disorder 1
147520	20p	Inosine triphosphatase deficiency
300021	Xp	Spinal muscular atrophy lethal infantile
Check 3: An additional 31 entries are imprecisely mapped in that it is not known on which side of the centromere they occur, ie may be on either p or q arm. This precision may be sufficient provided other aspects of the disease are favorable.

omim chr start stop morbid_map_disease_name
600737 9 p1 q1 Inclusion body myopathy autosomal recessive
601942 10 p11 q11 Diabetes mellitus insulin dependent 10
600224 11 p11 q11 Spinocerebellar ataxia 5
309610 X p11 q21 Mental retardation 2 dysmorphism cerebral atrophy
300047 X p11 q21 Mental retardation 20
309470 X p11 q21.3 Mental retardation syndromic 3 spastic diplegia
600795 3 p11.1 q11.2 Dementia familial nonspecific
122000 20 p11.2 q11.2 Corneal dystrophy posterior polymorphous
121700 20 p11.2 q11.2 Congenital hereditary endothelial dystrophy cornea
135700 12 p11.2 q12 Fibrosis of extraocular muscles congenital 1
216900 2 p11.2 q12 Achromatopsia
128200 16 p11.2 q12.1 Paroxysmal kinesigenic choreoathetosis
602096 12 p11.23 q13.12 Alzheimer disease 5
304930 X p11.23 q21.1 Autoimmunity immunodeficiency syndrome
301830 X p11.3 q11.2 Arthrogryposis spinal muscular atrophy infantile
300062 X p11.3 q13.3 Mental retardation 14
300263 X p11.3 q21.3 Mental retardation syndrome Siderius
300218 X p11.3 q22 Mental retardation syndromic 7
602066 16 p12 q12 Convulsions infantile and paroxysmal choreoathetosis
604777 19 p12 q12 Ichthyosis lamellar type 3
266600 16 p12 q13 Inflammatory bowel disease 1
270800 8 p12 q13 Spastic paraplegia 5A
186580 16 p12 q21 Arthrocutaneouveal granulomatosis
106700 4 p13 q12 Total anomalous pulmonary venous return
601414 1 p13 q23 Retinitis pigmentosa 18
164953 19 p13.2 q13.3 Liposarcoma
601458 12 p13.2 q24.1 Inflammatory bowel disease 2
309549 X p21 q13 Mental retardation 9
108120 9 p21 q21 Distal arthrogryposis 1
309585 X p21.1 q22 Mental retardation 6 gynecomastia and obesity
300210 X p22 q12 Mental retardation nonspecific 58

Keeping up with disease research

19 Dec 00 webmaster research
New inherited diseases are still being discovered, and old ones are being mapped to their respective genes. How fast is this occurring, which table entries are affected, how rapidly is the table attaining obsolescence?

The OMIM Update Log shows 1176 new entries over the calendar year 2000 (average 98 a month) with 6,327 annually edited existing entries (average 527 a month, about half of the current total of 12,128). Thus OMIM is very actively edited. No statistics are kept as to new partly mapped diseases or newly fully mapped diseases, though gene map loci totalled 6493 on 19 Dec 00. The time lag between identification of a disease journal and its appearance in OMIM can be very short or quite long or even missed.

NCBI maintains Morbid Map and various ftp downloads. There is no evidence of synchronicity between OMIM and updates of these derived products. NCBI also lags in developing RefSeqs for disease genes. For example, Morbid Map itself gives no clue as to when it was lasted updated to reflect the OMIM primary site. Its downloadable version is inexcusably out of synch.

Looking at the 36 new disease entries in the Dec 2000 update log, most merely recorded the identification and mapping of new human genes without an associated disease. Only 2 entries are relevent to the current project, which annualizes to 65 new partly mapped diseases per year from OMIM new entries:

need to be added:
605472 Usher Syndrome, Type IIC; USH2C 5q14.2-5q21.2 D5S428 88395068-88595068; D5S433 109751923-109951923
605463 Chr instability syndrome neurodegen 14q11.2 DNA ds breakage repair? no symbol

candidate gene not quite tied to a known disease:
605452 ABCB6 2q36, lethal neonatal metabolic syndrome iron metabolism (603358) candidate
The 288 changed OMIM entries for the month of December 2000 are tedious to evaluate because the nature of the change can be buried deep within the article. However, the immediate issue is change in any of the OMIM accession numbers in the table above from partly mapped disease genes to fully mapped. Of the 288 updates, 36 referenced the partly mapped gene table:
-147061 5q31.1

+159000 Hauser MA (Sep 2000) identified a mutation in the myotilin gene (604103.0001) as the cause of LGMD1A. 

+210250 SITOSTEROLEMIA 2p21 ABCG8 gene (605460) or in the ABCG5 two adjacent, oppositely oriented genes ABC transporter, vague map position fails to have gene or protein family AC011242 unfinished

-224120 15q15.1-q15.3 D15S779 and D15S778 the only known erythroid-specific gene mapped to this region was that for erythrocyte surface protein band 4.2 (EPB42; 177070). Sequence analysis of the coding region of the EPB42 gene revealed no mutations in the CDA I patients. 

-248310 5q31-q33 peak close to D5S658

+? 267750 21q22.3 COL18A1 gene (120328.0001). They identified a homozygous mutation at the AG consensus acceptor splice site of COL18A1 intron 1 exclusively in 12 KNO patients; the mutation was not found in 140 control chromosomes. failure to provide protein link ue to alternative splicing, the mutation creates a stop
 codon in exon 4, thus truncating the COL18A1 short form, which was otherwise expressed in human adult retina.

-276905 3p24.2-p23 USHER SYNDROME, TYPE IIB; USH2B D3S1578, D3S3647, and D3S3658. Thus,
the USH2B gene was mapped to a chromosomal region that overlaps the interval defined for the nonsyndromic sensorineural recessive deafness DFNB6 (600971), raising the possibility that a single gene underlies both defects. However, the audiometric features in the patients affected by USH2B and DFNB6 were quite different.

-300266 Xq11.2 insertional knockout

-305450 Xq12-q21.31 In 3 families with FGS1, Lossi et al. (2000) excluded 9 candidate genes that map to the same general region of Xq. 

-600807 5q31-q33

+603622 22q12.2-q13.3 Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am. J. Hum. Genet. 2000. Has locus link but not protein or gene, LL fails to have any info.

-605225 1p36 D1S1597 

- 605295 FIDGETIN; FIGN does not seem to be a human disease. human FIGN protein shares 97% identity with the mouse Fign
protein

- 605326 HUMAN T-CELL LEUKEMIA VIRUS TYPE 1-BINDING PROTEIN

+605330 TAX1BP1 gene to chromosome 7 (WI-11921). disease?

-605334 MOVED TO 300290 

+605339 FXR2 gene to chromosome 17p13.1. seems like they have protein but not the gene.

+605343 FSTL3 gene to chromosome 19p13. 

+605367 2 common missense variants in the ELAC2 needs better mapping just 17p.

+605381 RHCG gene to 15q25. 11 exons.
+605440 ATAXIN-1 UBIQUITIN-LIKE INTERACTING PROTEIN
+ 605441 ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1 APM13q27. However, also by FISH, Schaffler et al. (1999) mapped the APM1 gene to 1q21.3-q23. By
genomic sequence analysis, both groups determined that the gene spans 16 kb and contains 3 exons, and that the promoter lacks a TATA box. 

+?605446 RPGRIP1 gene spans a genomic interval of 34 kb and contains 15 exons. By somatic cell hybrid analysis and
radiation hybrid analysis, Boylan and Wright (2000) and Roepman et al. (2000) mapped the RPGRIP1 gene to chromosome 14q11. Roepman et al. (2000) suggested that the localization of RPGRIP1 at 14q11 makes it a strong candidate gene for RP16. 

+605449 disease? maped poorly, protein known

-605451 no disease protein known

-605458 no disease protein known
-605459 no disease protein known
-605460 no disease protein known
-605462 no real map data
-605466 no disease protein known
-605467 no disease protein known
-605468 no disease protein known
-605470 no disease protein known
-605474 no disease protein known


 


 

Medline checks for newly mapped diseases

19 Dec 00 webmaster research
Certain key journals publish new disease mapping results with each issue. Rather than wait for OMIM, and then NCBI, to catch up, it is worth scanning current issues to see how fast disease genes are being mappedl

Thus the Jan 2001 issue of Am. J. Hum. Genet. had the following relevent findings:

New partly mapped genes:

DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment maps to 12q21-24.

novel dominant locus, DFNA25, for delayed-onset, progressive, high-frequency, nonsyndromic sensorineural hearing loss, located in a 20-cM region of chromosome 12q21-24 between D12S327 and D12S84. Candidate genes in this region include ATP2A2, ATP2B1, UBE3B, and VR-OAC. DFNA25 may be the human ortholog of bronx waltzer (bv)

A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell Syndrome delimits a candidate gene region.

Maternal uniparental disomy of chromosome 7 (matUPD7), the inheritance of both chromosomes from only the mother, is observed in approximately 10% of patients with Silver-Russell syndrome (SRS). To date, three imprinted genes-PEG1/MEST, gamma2-COP, and GRB10-have been identified on chromosome 7 at 7q32. Our findings delimit a candidate imprinted region sufficient to cause SRS.

Genetic and physical mapping of the locus for autosomal dominant renal Fanconi Syndrome, on Chromosome 15q15.3.

Autosomal dominant renal Fanconi syndrome is a genetic model for the study of proximal renal tubular transport pathology. We were able to map the locus for this disease to human chromosome 15q15.3, markers D15S182 and D15S537, bounded by D15S182 and D15S143. The identification of the gene and gene product altered in autosomal dominant renal Fanconi syndrome will allow the study of the physiology of proximal renal tubular transport.

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

Primary microcephaly is a genetic disorder in which an affected individual has a head circumference >3 SDs below the age- and sex-related mean. A small but apparently normally formed brain is the reason for the reduced head circumference, and, probably because of this, all affected individuals are mentally retarded. The condition is genetically heterogeneous, and four loci have already been identified. We now report a fifth locus, MCPH5, which is an 8-cM region mapping to chromosome 1q31, defined by the markers GATA135F02 and D1S1678. Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. The minimal critical region spans 11.4 cM between markers D1S384 and D1S2655, at 1q25-q32, and encompasses the cytogenetic breakpoints of chromosomal aberrations previously reported in unrelated patients with microcephaly.

Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland.

Coronary heart disease (CHD) . A region on chromosome 2q21.1-22 and a region on chromosome Xq23-26 identified two loci likely to contribute to premature CHD: one on chromosome 2q21.1-22 and another on chromosome Xq23-26.

Genome scan of human systemic lupus erythematosus by regression modeling: evidence of linkage and epistasis at 4p16-15.2.

We identify a novel linkage to chromosome 4p16-15.2 and present evidence of an epistatic interaction to chromosome 5p15

Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1.

Polycystic liver disease (PCLD) is characterized by the growth of fluid-filled cysts of biliary epithelial origin in the liver. A causative gene, PCLD, was mapped to chromosome 19p13.2-13.1, flanked by D19S586/D19S583 and D19S593/D19S579. The discovery of genetic linkage will facilitate diagnosis and study of this underdiagnosed disease entity. Identification of PCLD will be instrumental to an understanding of the pathogenesis of cyst formation in the liver in isolated PCLD and in ADPKD.

Genomewide search for type 2 diabetes-susceptibility genes

evidence for a novel susceptibility locus for early-onset diabetes on chromosome 3q27-qter and independent replication of a type 2-diabetes locus on chromosome 1q21-q24. Newly resolved diseases:

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as CMT2 ), and one locus (1q21.2-q21.3) has been reported for the autosomal recessive form. By analyzing three branches of the family we detected linkage to the 19q13.3 region between markers D19S902 and D19S907, D19S867. The epithelial membrane protein 3 gene, encoding a PMP22 homologous protein and located on 19q13.3, was ruled out as being responsible for this form of CMT. The phenotype and locus are different from those of demyelinating CMT4F, recently mapped to 19q13.1-13.3; hence, the disease affecting the Costa Rican family constitutes an axonal, autosomal recessive CMT subtype (ARCMT2B).

Mutations in the Hepatocyte Nuclear Factor-1beta Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease.

Familial glomerulocystic kidney disease (GCKD) is a dominantly inherited condition characterized by glomerular cysts and variable renal size and function; the molecular genetic etiology is unknown. Mutations in the gene encoding hepatocyte nuclear factor (HNF)-1beta have been associated with early-onset diabetes and nondiabetic renal disease-particularly renal cystic disease. We investigated a possible role for the HNF-1beta gene in four unrelated GCKD families and identified mutations in two families: a nonsense mutation in exon 1 (E101X) and a frameshift mutation in exon 2 (P159fsdelT). The family members with HNF-1beta gene mutations had hypoplastic GCKD and early-onset diabetes or impaired glucose tolerance. We conclude that there is genetic heterogeneity in familial GCKD and that the hypoplastic subtype is a part of the clinical spectrum of the renal cysts and diabetes syndrome that is associated with HNF-1beta mutations.

A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16.

Dilated cardiomyopathy (DCM) is a heart-muscle disease characterized by ventricular dilatation and impaired heart contraction and is heterogeneous both clinically and genetically. To date, 12 candidate disease loci have been described for autosomal dominant DCM. We report the identification of a new locus on chromosome 6q12-16 D6S1644 and D6S1694 between markers D6S1627 and D6S1716. This locus was found by using a genomewide search after exclusion of all reported disease loci and genes for DCM. This locus does not overlap with two other disease loci that have been described in nonpure forms of DCM and have been mapped on 6q23-24 and 6q23. The phospholamban, malic enzyme 1-soluble, and laminin-alpha4 genes were excluded as candidate genes.

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

Heterozygous mutations within the bone morphogenetic protein type II receptor (BMPR-II) gene (BMPR2), of the transforming growth factor beta (TGF-beta) cell-signaling superfamily, have been identified in familial and sporadic cases of PPH. We report the molecular spectrum of BMPR2 mutations in 47 additional families with PPH and in three patients with sporadic PPH. Among the cohort of patients, we have identified 22 novel mutations, including 4 partial deletions, distributed throughout the BMPR2 gene.

Mutation analysis of the entire pkd1 gene: genetic and diagnostic implications.

Mutation screening of the major autosomal dominant polycystic kidney disease (ADPKD) locus, PKD1, has proved difficult because of the large transcript and complex reiterated gene region.Mutation screening of the major autosomal dominant polycystic kidney disease (ADPKD) locus, PKD1, has proved difficult because of the large transcript and complex reiterated gene region.

Mutational analysis in a cohort of 224 tuberous sclerosis patients

Mutations were identified in 186 (83%) of 224 of cases, comprising 138 small TSC2 mutations, 20 large TSC2 mutations, and 28 small TSC1 mutations.

Gene preference in maple syrup urine disease.

Although inheritance of MSUD adheres to rules for single-gene traits, mutations in the genes for E1alpha, E1beta, or E2 of the mitochondrial branched-chain alpha-ketoacid dehydrogenase complex can cause the disease. Randomly selected cell lines from 63 individuals with clinically diagnosed MSUD were tested by retroviral complementation of branched-chain alpha-ketoacid dehydrogenase activity to identify the gene locus for mutant alleles. The frequencies of the mutations were 33% for the E1alpha gene, 38% for the E1beta gene, and 19% for the E2 gene.

Genotypic and phenotypic spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III.

Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Three subtypes have been described: TRPS I, caused by mutations in the TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and TRPS III, a form with severe brachydactyly, due to short metacarpals, and severe short stature, but without exostoses. To investigate whether TRPS III is caused by TRPS1 mutations... we found 35 different mutations in 44 of 51 unrelated patients. The detection rate (86%) indicates that TRPS1 is the major locus for TRPS I and TRPS III. Our data indicate that TRPS III is at the severe end of the TRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene.

CHRNB2: second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, idiopathic partial epilepsy characterized by clusters of motor seizures occurring in sleep. We describe a mutation of the beta2 subunit of the nicotinic acetylcholine receptor, effecting a V287M substitution within the M2 domain. The mutation, in an evolutionary conserved region of CHRNB2, is associated with ADNFLE in a Scottish family. Functional receptors with the V287M mutation are highly expressed in Xenopus oocytes and characterized by an approximately 10-fold increase in acetylcholine sensitivity. CHRNB2 is a new gene for idiopathic epilepsy, the second acetylcholine receptor subunit implicated in ADNFLE.

A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency.

Gephyrin was originally identified as a membrane-associated protein that is essential for the postsynaptic localization of receptors for the neurotransmitters glycine and GABA(A). A sequence comparison revealed homologies between gephyrin and proteins necessary for the biosynthesis of the universal molybdenum cofactor (MoCo). Human MoCo deficiency is a fatal disease resulting in severe neurological damage and death in early childhood. Most patients harbor MOCS1 mutations, which prohibit formation of a precursor, or carry MOCS2 mutations, which abrogate precursor conversion to molybdopterin. The present report describes the identification of a gephyrin gene (GEPH) deletion in a patient with symptoms typical of MoCo deficiency.

Acheiropodia Is Caused by a Genomic Deletion in C7orf2, the Human Orthologue of the Lmbr1 Gene.

Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. This severely handicapping condition appears to affect only the extremities, with no other systemic manifestations reported. Recently, a locus for acheiropodia was mapped on chromosome 7q36. Herein we report the narrowing of the critical region for the acheiropodia gene and the subsequent identification of a common mutation in C7orf2-the human orthologue of the mouse Lmbr1 gene-that is responsible for the disease. It leads to the production of a C7orf2 transcript lacking exon 4 and introduces a premature stop codon downstream of exon 3.

Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are caused by allelic mutations of the novel cadherin-like gene CDH23.

Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22. Seven highly consanguineous families segregating nonsyndromic autosomal recessive deafness were analyzed to refine the DFNB12 locus. In a single family, a critical region was defined between D10S1694 and D10S1737. Eighteen candidate genes in the region were sequenced. Mutations in a novel cadherin-like gene, CDH23, were found both in families with DFNB12 and in families with USH1D. Six missense mutations were found in five families with DFNB12, and two nonsense and two frameshift mutations were found in four families with USH1D.

Mutations in the Hepatocyte Nuclear Factor-1beta Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease.

Familial glomerulocystic kidney disease (GCKD) is a dominantly inherited condition characterized by glomerular cysts and variable renal size and function; the molecular genetic etiology is unknown. Mutations in the gene encoding hepatocyte nuclear factor (HNF)-1beta have been associated with early-onset diabetes and nondiabetic renal disease-particularly renal cystic disease. We investigated a possible role for the HNF-1beta gene in four unrelated GCKD families and identified mutations in two families: a nonsense mutation in exon 1 (E101X) and a frameshift mutation in exon 2 (P159fsdelT). The family members with HNF-1beta gene mutations had hypoplastic GCKD and early-onset diabetes or impaired glucose tolerance. We conclude that there is genetic heterogeneity in familial GCKD and that the hypoplastic subtype is a part of the clinical spectrum of the renal cysts and diabetes syndrome that is associated with HNF-1beta mutations.

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.

Lymphedema-distichiasis (LD) is an autosomal dominant disorder that classically presents as lymphedema of the limbs, with variable age at onset, and double rows of eyelashes (distichiasis). Subsequently, a gene for LD was mapped, by linkage studies, to a 16-cM region at 16q24.3. we identified inactivating mutations-a nonsense mutation and a frameshift mutation-in the FOXC2 (MFH-1) gene. FOXC2 is a member of the forkhead/winged-helix family of transcription factors, whose members are involved in diverse developmental pathways. FOXC2 knockout mice display cardiovascular, craniofacial, and vertebral abnormalities similar to those seen in LD syndrome. Our findings show that FOXC2 haploinsufficiency results in LD. FOXC2 represents the second known gene to result in hereditary lymphedema, and LD is only the second hereditary disorder known to be caused by a mutation in a forkhead-family gene.

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma.

Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine sweat glands, . Recently, mutations in IKK-gamma (NEMO) have been shown to cause familial incontinentia pigmenti (IP). Unlike HED-ID, IP affects females and, with few exceptions, causes male prenatal lethality. IKK-gamma is required for the activation of the transcription factor known as "nuclear factor kappa B" and plays an important role in T and B cell function. We hypothesize that "milder" mutations at this locus may cause HED-ID. In all four families, sequence analysis reveals exon 10 mutations affecting the carboxy-terminal end of the IKK-gamma protein, a domain believed to connect the IKK signalsome complex to upstream activators. The findings define a new X-linked recessive immunodeficiency syndrome, distinct from other types of HED and immunodeficiency syndromes. The data provide further evidence that the development of ectodermal appendages is mediated through a tumor necrosis factor/tumor necrosis factor receptor-like signaling pathway, with the IKK signalsome complex playing a significant role. Diagnostic testing for rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1/10,000-15,000 girls. The disease-causing gene was identified as MECP2 on chromosome Xq28, and mutations have been found in approximately 80% of patients diagnosed with RTT.

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

The fibroblast growth factor-receptor 3 (FGFR3) Lys650 codon is located within a critical region of the tyrosine kinase-domain activation loop. Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]). Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G [both resulting in Asn540Lys]) are known to cause hypochondroplasia, a relatively common but milder skeletal dysplasia.

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency-a neurometabolic disorder associated with reduced L-serine biosynthesis.

3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures. To investigate the molecular basis for this disorder, the PHGDH mRNA sequence was characterized, and six patients from four families were analyzed for sequence variations. Five patients from three different families were homozygous for a single nucleotide substitution predicted to change valine at position 490 to methionine. The sixth patient was homozygous for a valine to methionine substitution at position 425; both mutations are located in the carboxyterminal part of PHGDH.

Other journals:

Hum Mol Genet. : looking at the most recent 100 articles from December 2000 and earlier:

Disruption of the mouse Necdin gene results in hypothalamic and behavioral
alterations reminiscent of the human Prader-Willi syndrome.
Hum Mol Genet. 2000 Dec 12;9(20):3101-3110.
These striking parallels in hypothalamic structure, emotional and cognitive-related behaviors strongly suggest that NECDIN is responsible for at least a subset of the multiple clinical manifestations of PWS.
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients
with the Carney complex.
Hum Mol Genet. 2000 Dec 12;9(20):3037-3046.
Carney complex (CNC) is an autosomal dominant multiple neoplasia syndrome, which has been linked to loci on 2p16 and 17q22-24. We recently reported that PRKAR1A, which codes for the type 1A regulatory subunit of protein kinase A (PKA), is a tumor suppressor gene on chromosome 17 that is mutated in some CNC families. We conclude that (i) genetic heterogeneity exists in CNC; and (ii) all of the CNC alleles on 17q are functionally null mutations of PRKAR1A. CNC is the first human disease recognized to be caused by mutations of the PKA holoenzyme, a critical component of cellular signaling.
The location and type of mutation predict malformation severity in isolated
lissencephaly caused by abnormalities within the LIS1 gene.
Hum Mol Genet. 2000 Dec 12;9(20):3019-3028.
Lissencephaly is a cortical malformation secondary to impaired neuronal migration resulting in mental retardation, epilepsy and motor impairment. It shows a severity spectrum from agyria with a severely thickened cortex to posterior band heterotopia only. The LIS1 gene on 17p13.3 encodes a 45 kDa protein named PAFAH1B1 containing seven WD40 repeats. he LIS1 gene on 17p13.3 encodes a 45 kDa protein named PAFAH1B1 containing seven WD40 repeats. This protein is required for optimal neuronal migration by two proposed mechanisms: as a microtubule-associated protein and as one subunit of the enzyme platelet-activating factor acetylhydrolase. Approximately 65% of patients with isolated lissencephaly sequence (ILS) show intragenic mutations or deletions of the LIS1 gene. We hypothesize that the greater lissencephaly severity seen in Miller-Dieker syndrome may be secondary to the loss of another cortical development gene in the deletion of 17p13.3.
Defective intracellular transport and processing of OA1 is a major cause of
ocular albinism type 1.
Hum Mol Genet. 2000 Dec 12;9(20):3011-3018.
Various types of mutation have been identified within the OA1 gene in patients with the disorder, including several missense mutations of unknown functional significance.
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a
nephrolithiasis disorder associated with defective receptor-mediated
endocytosis.
Hum Mol Genet. 2000 Dec 12;9(20):2937-2945.
ephrolithiasis (kidney stones) affects 5-10% of adults and is most commonly associated with hypercalciuria, which may be due to monogenic renal tubular disorders. One such hypercalciuric disorder is Dent's disease. Dent's disease is due to inactivating mutations of the renal-specific voltage-gated chloride channel, CLC-5.
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new
inborn error caused by a mutation in the gene encoding
Delta(1)-pyrroline-5-carboxylate synthase.
Hum Mol Genet. 2000 Nov 22;9(19):2853-8.
Delta(1)-pyrroline-5-carboxylate synthase (P5CS), a bifunctional ATP- and NADPH-dependent mitochondrial enzyme, catalyzes the reduction of glutamate to Delta(1)-pyrroline-5-carboxylate, a critical step in the biosynthesis of proline, ornithine and arginine. Here, we describe a newly recognized inborn error due to the deficiency of P5CS in two siblings with progressive neurodegeneration, joint laxity, skin hyperelasticity and bilateral subcapsular cataracts. Their metabolic phenotype includes hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia. Both are homozygous for the missense mutation, R84Q, which alters a conserved residue in the P5CS gamma-glutamyl kinase domain. R84Q is not present in 194 control chromosomes and dramatically reduces the activity of both P5CS isoforms when expressed in mammalian cells. Additionally, R84Q appears to destabilize the long isoform. This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease.
Glutamate carboxypeptidase II: a polymorphism associated with lower levels of
serum folate and hyperhomocysteinemia.
Hum Mol Genet. 2000 Nov 22;9(19):2837-44.
Low blood folate levels result in hyperhomocysteinemia, which has been associated with increased risk for cardiovascular disease, neural tube defects and cognitive deficits. Intake of dietary folates is the chief determinant of blood folate levels. Molecular defects in the intestinal absorption of dietary folates that precipitate low blood folate levels and hyperhomocysteinemia have not been investigated previously. Dietary folates are a mixture of polyglutamylated folates which are digested to monoglutamyl folates by the action of folylpoly-gamma-glutamate carboxypeptidase (FGCP), an enzyme that is anchored to the intestinal brush border membrane and is expressed by the glutamate carboxypepidase II (GCPII) gene. Low blood folate levels result in hyperhomocysteinemia, which has been associated with increased risk for cardiovascular disease, neural tube defects and cognitive deficits. Intake of dietary folates is the chief determinant of blood folate levels. Molecular defects in the intestinal absorption of dietary folates that precipitate low blood folate levels and hyperhomocysteinemia have not been investigated previously. Dietary folates are a mixture of polyglutamylated folates which are digested to monoglutamyl folates by the action of folylpoly-gamma-glutamate carboxypeptidase (FGCP), an enzyme that is anchored to the intestinal brush border membrane and is expressed by the glutamate carboxypepidase II (GCPII) gene.
Replication protein A1 reduces transcription of the endothelial nitric oxide
synthase gene containing a -786T-->C mutation associated with coronary spastic
angina.
Hum Mol Genet. 2000 Nov 1;9(18):2629-37.
We recently reported that a mutation (-786T-->C) in the promoter region of the endothelial nitric oxide synthase (eNOS) gene reduced transcription of the gene and was strongly associated with coronary spastic angina and myocardial infarction. The purified protein was identical to replication protein A1 (RPA1), known as a single-stranded DNA binding protein essential for DNA repair, replication and recombination. RPA1 thus apparently functions as a repressor protein in the -786T-->C mutation-related reduction of eNOS gene transcription associated with the development of coronary artery disease.
An autosomal dominant congenital myopathy with cores and rods is associated with
a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
Hum Mol Genet. 2000 Nov 1;9(18):2599-608.
Central core disease (CCD) and nemaline myopathy (NM) are congenital myopathies for which differential diagnosis is often based on the presence either of cores or rods. Missense mutations in the skeletal muscle ryanodine receptor gene (RYR1) have been identified in some families with CCD. Mutations in the alpha-tropomyosin and alpha-actin genes have been associated with most dominant forms of NM. This first report of a neomutation in the RYR1 gene has strong implications for genetic linkage studies of MHS or CCD, two diseases characterized by a genetic heterogeneity.
New mutations in MID1 provide support for loss of function as the cause of
X-linked opitz syndrome.
Hum Mol Genet. 2000 Oct 12;9(17):2553-62.
Opitz syndrome (OS) is a genetically heterogeneous malformation disorder. Patients with OS may present with a variable array of malformations that are indicative of a disturbance of the primary midline developmental field. Mutations in the C-terminal half of MID1, an RBCC (RING, B-box and coiled-coil) protein, have recently been shown to underlie the X-linked form of OS. These new data and the finding of linkage to MID1 in the absence of a demonstrable open reading frame mutation in a further family support the conclusion that X-linked OS results from loss of function of MID1.
Mucolipidosis type IV is caused by mutations in a gene encoding a novel
transient receptor potential channel.
Hum Mol Genet. 2000 Oct 12;9(17):2471-8.
Mucolipidosis type IV (MLIV) is a developmental neurodegenerative disorder characterized by severe neurologic and ophthalmologic abnormalities. The MLIV gene, ML4 (MCOLN1), has recently been localized to chromosome 19p13.2-13.3 by genetic linkage. Here we report the cloning of a novel transient receptor potential cation channel gene and show that this gene is mutated in patients with the disorder. ML4 encodes a protein, which we propose to call mucolipin, which has six predicted transmembrane domains and is a member of the polycystin II subfamily of the DROSOPHILA: transient receptor potential gene family.
Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron
metabolism.
Hum Mol Genet. 2000 Oct;9(16):2377-82.
The application of molecular genetics to haemochromatosis and experimental mutagenesis in animals has transformed our capacity to investigate the unique physiology of iron homeostasis-a key problem in biology and medicine. The identification of HFE, the principal determinant of adult haemochromatosis (HFE1; OMIM 235200) and TfR2, recently implicated in a rarer form of the inherited disorder (HFE3; OMIM 604250), and the promise of candidate genes for juvenile haemochromatosis (HFE2; OMIM 602390) and neonatal haemochromatosis (OMIM 231100) provide the foundation for important studies into the control mechanism of iron balance in humans. The rare conditions atransferrinaemia (OMIM 209300) and acaeruloplasminaemia (OMIM 604290), each associated with tissue iron overload, have already implicated the iron transport ligand transferrin and the copper transporter caeruloplasmin in the control of iron homeostasis. Gene mapping studies in animal mutants with anaemia due to defects in the uptake or tissue transfer of iron have yielded novel proteins involved in iron transport: DMT1 (brush border transporter of ferrous iron) in the mk/mk mouse, hephaestin (basolateral multi-copper ferroxidase) in the sex-linked anaemic mouse (sla) and ferroportin1 (basolateral iron exporter) in zebrafish weh mutants.
Rett syndrome: a surprising result of mutation in MECP2.
Hum Mol Genet. 2000 Oct;9(16):2365-75.
The identification of mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) in Rett syndrome represents a major advance in the field.
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A)
binding protein 2 aggregates which sequester poly(A) RNA.
Hum Mol Genet. 2000 Sep 22;9(15):2321-8.
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease characterized by progressive eyelid drooping, swallowing difficulties and proximal limb weakness. The autosomal dominant form of the disease is caused by short (GCG)(8-13) expansions in the PABP2 gene. This gene encodes the poly(A) binding protein 2 (PABP2), an abundant nuclear protein that binds with high affinity to nascent poly(A) tails, stimulating their extension and controlling their length. This raises the possibility that in OPMD the polyalanine expansions in the PABP2 protein may interfere with the cellular traffic of poly(A) RNA.
Laforin, defective in the progressive myoclonus epilepsy of lafora type, is a
dual-specificity phosphatase associated with polyribosomes.
Hum Mol Genet. 2000 Sep 22;9(15):2251-61.
The progressive myoclonus epilepsy of Lafora type is an autosomal recessive disorder caused by mutations in the EPM2A gene. EPM2A is predicted to encode a putative tyrosine phosphatase protein, named laforin, whose full sequence has not yet been reported. The full-length clone predicts a 38 kDa laforin that was very close to the size detected in transfected cells.
Identification of WTAP, a novel Wilms' tumour 1-associating protein.
Hum Mol Genet. 2000 Sep 22;9(15):2231-9.
The Wilms' tumour suppressor gene WT1 is essential for the normal development of the genitourinary system. We report the identification of a novel human WT1-associating protein, WTAP, which was isolated using the yeast two-hybrid system. Both in vitro and in vivo assays have shown that the interaction between WTAP and WT1 is specific and occurs endogenously in cells. The mouse homologue of WTAP was isolated and found to be >90% conserved at the nucleotide and protein levels. The human and mouse genes were mapped using fluorescence in situ hybridization to regions in chromosomes 6 (which is thought to harbour a tumour suppressor gene) and 17, respectively.
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on
phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.
Hum Mol Genet. 2000 Sep 22;9(15):2223-9.
Myotubular myopathy (MTM1) is an X-linked disease, characterized by severe neonatal hypotonia and generalized muscle weakness, with pathological features suggesting an impairment in maturation of muscle fibres. The MTM1 gene encodes a protein (myotubularin) with a phosphotyrosine phosphatase consensus. It defines a family of at least nine genes in man, including the antiphosphatase hMTMR5/Sbf1 and hMTMR2, recently found mutated in a recessive form of Charcot-Marie-Tooth disease.
Interaction between LIS1 and doublecortin, two lissencephaly gene products.
Hum Mol Genet. 2000 Sep 22;9(15):2205-13..
Mutations in either LIS1 or DCX are the most common cause for type I lissencephaly. Here we report that LIS1 and DCX interact physically both in vitro and in vivo. J Med Genet fails to offer abstracts to medline
Am J Med Genetics
Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient:
Identification of candidate genes for autism and of homologous DNA segments in
15q22-q23 and 15q11-q13.
We have identified a one megabase deletion in the 15q22-15q23 region in a patient with autism, developmental delay, and mild dysmorphism. Genes that map within the deletion region and genes that are interrupted or rearranged at the deletion breakpoints are candidate genes for autism.
Three novel mutations of the proto-oncogene KIT cause human piebaldism.
No abstract.
Localization of SRY by primed in situ labeling in XX and XY sex reversal.
Contribution of connexin 26 mutations to nonsyndromic deafness in ashkenazi
patients and the variable phenotypic effect of the mutation 167delT.
Twenty-seven unrelated Jewish Ashkenazi patients with nonsyndromic prelingual deafness (NSD) were analyzed for mutations in the coding sequence of the connexin 26 (Cx26) gene. Biallelic mutations were identified in 19 of the 27 patients (70.4%); 12 were homozygous for the mutation 167delT, 2 were homozygous for the mutation 35delG, and 5 were compound 167delT/35delG heterozygotes.

Hum Genet
xxx European Journal Of Human Genetics
... Genomics
...


 




 






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