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Homeodomain Resource

Human Genetic and Genomic Disorders Linked to Homeodomain Proteins


   

All 206 records in the database are displayed below. To narrow down the number of entries displayed, use the search engine on the HDR Home Page.

For each homeodomain protein listed below, the OMIM entry name is provided, along with a list of known mutations at both the nucleotide and protein levels, as documented in OMIM. For genes with corresponding entries in HGMD, a link to the HGMD entry is also provided; please note that users must register to view detailed data in HGMD. Columns may be resorted by clicking on any of the hyperlinked column headers.


Entrez Gene Symbol Map Location OMIM HGMD (Log-in Required)
Accession Entry Name Nucleotide-level Mutations Protein-level Mutations Gene
ADNP *611386 ACTIVITY-DEPENDENT NEUROPROTECTOR HOMEOBOX; ADNP
ALX1 12q21.3-q22 *601527 CARTILAGE HOMEOPROTEIN 1; CART1
ALX3 1p21-p13 *606014 ARISTALESS-LIKE HOMEOBOX 3; ALX3
ALX4 11p11.2 *605420 PARIETAL FORAMINA 2 1-BP DEL, 504T;
10-BP DEL, NT385		 ALX4
GLN140TER;
GLN246TER;
ARG218GLN;
ARG272PRO;
SER207TER
11p11.2 #609597 PARIETAL FORAMINA 2; PFM2
5q34-q35 #168500 PARIETAL FORAMINA; PFM
ARGFX 3q13.3 *611164 ARGININE-FIFTY HOMEOBOX; ARGFX
ARX Xp22.13 *300382 HYDRANENCEPHALY WITH ABNORMAL GENITALIA ARX
GLU369TER
LISSENCEPHALY, X-LINKED, 2 32-BP DEL, NT420;
1-BP DEL, 790C;
1-BP INS, 1188C;
EX1-2DEL;
1-BP DEL, 1372G
ARG332HIS;
GLN373TER;
LEU343GLN
MYOCLONIC EPILEPSY, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY
PRO353LEU
CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA
THR333ASN
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 (GCG)10+7;
24-BP DUP, NT428;
1,517-BP DEL;
33-BP DUP
MENTAL RETARDATION, X-LINKED 54
LEU33PRO;
GLY286SER
Xp22.13 #300432 EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY
Xp22.13 #300215 LISSENCEPHALY, X-LINKED, 2; LISX2
Xp22.13 #308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Xp22.13 #300419 MENTAL RETARDATION, X-LINKED 54; MRX54
Xp22.13 #300004 CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA
Xp22.13 #309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS
BARHL1 9q34 *605211 BARH-LIKE 1; BARHL1
BARHL2 *605212 BARH-LIKE 2; BARHL2
BARX1 9q12 *603260 BarH-LIKE HOMEOBOX GENE 1; BARX1
BARX2 11q25 *604823 BarH-LIKE HOMEOBOX GENE 2; BARX2
BSX 11q24.1 *611074 BRAIN-SPECIFIC HOMEOBOX, MOUSE, HOMOLOG OF
CDX1 5q31-q33 *600746 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 1; CDX1
CDX2 13q12.3 *600297 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 2; CDX2
CDX4 Xq13.2 *300025 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 4; CDX4
CRX 19q13.3 +602225 LEBER CONGENITAL AMAUROSIS, TYPE VII 2-BP DEL, GLU168;
1-BP DEL, GLY217;
1-BP DEL, 520G		 CRX
ARG90TRP
RETINITIS PIGMENTOSA, LATE-ONSET DOMINANT
ARG41GLN
CONE-ROD DYSTROPHY 2 1-BP DEL, 502G;
1-BP DEL, 615C;
3-BP DEL/2-BP INS, NT816
GLU80ALA;
ARG41TRP
19q13.3 #120970 CONE-ROD DYSTROPHY 2; CORD2
19q13.3, 1q41, 16q13, multiple loci #268000 RETINITIS PIGMENTOSA; RP
CUX1 7q22 *116896 CUT-LIKE 1; CUTL1
CUX2 *610648 CUT-LIKE 2; CUTL2
DLX1 2q32 *600029 DISTAL-LESS HOMEOBOX 1; DLX1
DLX2 2q32 *126255 DISTAL-LESS HOMEOBOX 2; DLX2
DLX3 17q21.3-q22 *600525 TRICHODENTOOSSEOUS SYNDROME 4-BP DEL, NT3198 DLX3
AMELOGENESIS IMPERFECTA, TYPE IV 2-BP DEL, 560CT
17q21.3-q22 #104510 AMELOGENESIS IMPERFECTA, TYPE IV; AI4
17q21.3-q22 #190320 TRICHODENTOOSSEOUS SYNDROME
DLX4 17q21.3-q22 *601911 DISTAL-LESS HOMEOBOX 4; DLX4
DLX5 7q22 *600028 DISTAL-LESS HOMEOBOX 5; DLX5
DLX6 7q22 *600030 DISTAL-LESS HOMEOBOX 6; DLX6
DMBX1 *607410 DIENCEPHALON/MESENCEPHALON HOMEOBOX 1; DMBX1
DPRX *611165 DIVERGENT-PAIRED RELATED HOMEOBOX; DPRX
DRGX Chr.10 *606701 DRG11, RAT, HOMOLOG OF
DUXA *611168 DOUBLE HOMEOBOX A; DUXA
EMX1 2p14-p13 *600034 EMPTY SPIRACLES, DROSOPHILA, HOMOLOG OF, 1; EMX1
EMX2 10q26.1 *600035 SCHIZENCEPHALY 1-BP INS;
IVS1AS, G-A, -1;
IVS1AS, G-T, -4;
G-T, EXON 2, NT1		 EMX2
10q26.1 #269160 SCHIZENCEPHALY
EN1 2q13-q21 *131290 ENGRAILED 1; EN1
EN2 7q36 *131310 AUTISM, ASSOCIATION WITH, 10 A/G;
C/T
7q36 %611016 AUTISM, SUSCEPTIBILITY TO, 10; AUTS10
ESX1 Xq22.1-q22.3 *300154 ESX1-LIKE PROTEIN; ESX1L
EVX1 7p15-p14 *142996 EVEN-SKIPPED HOMEOBOX 1; EVX1
EVX2 2q31-q32 *142991 EVEN-SKIPPED HOMEOBOX 2; EVX2
GBX1 7q36 *603354 GASTRULATION BRAIN HOMEOBOX 1; GBX1
GBX2 2q36-q37 *601135 GASTRULATION BRAIN HOMEOBOX 2; GBX2
GSC 14q32.1 *138890 GOOSECOID; GSC
GSC2 22q11.2 *601845 GOOSECOID-LIKE; GSCL
HESX1 3p21.2-p21.1 *601802 SEPOOPTIC DYSPLASIA 1-BP DEL, 1684G HESX1
SEPTOOPTIC DYSPLASIA, MILD
SER170LEU
SEPTOOPTIC DYSPLASIA 2-BP INS, 306AG
ARG160CYS
PITUITARY HORMONE DEFICIENCY, COMBINED, HESX1-RELATED 2-BP DEL, 449AC;
IVS2, T-C, +2
ILE26THR
GROWTH HORMONE DEFICIENCY, HESX1-RELATED
THR181ALA;
GLU149LYS
3p21.2-p21.1 #182230 SEPTOOPTIC DYSPLASIA
HHEX 10q24 *604420 DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO rs1111875
HLX 1q41-q42.1 *142995 H.20-LIKE HOMEOBOX 1; HLX1
HMX1 4p16.1 *142992 OCULOAURICULAR SYNDROME 26-BP DEL, NT215
4p16.1 #612109 OCULOAURICULAR SYNDROME
HMX2 10q25.2-q26.3 *600647 H6 FAMILY HOMEOBOX 2; HMX2
HNF1A 12q24.2 *142410 INSULIN RESISTANCE, SUSCEPTIBILITY TO TCF1
ILE27LEU
HEPATIC ADENOMA
GLY574SER;
ARG583GLN
DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
GLY319SER
INSULIN-DEPENDENT DIABETES MELLITUS 1-BP DEL, 142G
ARG272HIS;
ARG583GLY
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III 1-BP INS, 872C;
1-BP DEL;
A-C, -58;
1-BP DEL, -119G;
4-BP DEL;
IVS3, G-A, -1;
2-BP DEL, AG
PRO447LEU;
TYR122CYS;
THR620ILE;
PRO112LEU;
ARG131TRP;
ALA276ASP;
SER531THR;
GLY92ASP
19q13.1-q13.2, 19p13.2, 17q25, multiple loci #125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
12q24.2 #142330 HEPATIC ADENOMAS, FAMILIAL
17q12, 17p11.2, 12q24.2, multiple loci #144700 RENAL CELL CARCINOMA 1; RCC1
12q24.2, 12q24.2, 12q24, multiple loci %222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
12q24.2 #600496 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3
HNF1B 17q12 *189907 RENAL CELL CARCINOMA, CHROMOPHOBE, SUSCEPTIBILITY TO 1-BP DEL, 46C TCF2
PROSTATE CANCER, HEREDITARY, 11 IVS2, G-A;
IVS1, C-T
DIABETES MELLITUS, NONINSULIN-DEPENDENT
SER465ARG
RENAL CYSTS AND DIABETES SYNDROME 75-BP DEL, NT409;
5-BP DEL;
1-BP DEL;
1-BP INS, 1055A;
IVS2DS, G-A, +1;
IVS2DS, G-T, +1;
EX5DUP
ARG177TER;
GLU101TER;
ARG276TER;
SER148TRP;
ARG165HIS
19q, 17p11, 16q22.3-q23.1, multiple loci #176807 PROSTATE CANCER
19q13.1-q13.2, 19p13.2, 17q25, multiple loci #125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
17q12 #611955 PROSTATE CANCER, HEREDITARY, 11; HPC11
17q12 #137920 RENAL CYSTS AND DIABETES SYNDROME
17q12, 17p11.2, 12q24.2, multiple loci #144700 RENAL CELL CARCINOMA 1; RCC1
HOMEZ *608119 HOMEODOMAIN LEUCINE ZIPPER-CONTAINING FACTOR
HOPX Chr.4 *607275 HOMEODOMAIN-ONLY PROTEIN
HOXA1 7p15.3 *142955 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME
ARG26TER
BOSLEY-SALIH-ALORAINY SYNDROME 1-BP INS, 175G;
1-BP DEL, 185G
TYR28TER
7p15.3 #601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS
HOXA10 7p15-p14.2 *142957 HOMEOBOX A10; HOXA10
HOXA11 7p15-p14.2 *142958 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1-BP DEL HOXA11
7p15-p14.2 #605432 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA
HOXA13 7p15-p14.2 *142959 GUTTMACHER SYNDROME GLN50LEU, 2-BP DEL, -79GC HOXA13
HAND-FOOT-GENITAL SYNDROME 407A-C;
24-BP INS, NT387;
POLY-ALA EXP, 6-ALA INS;
POLY-ALA EXP, 9-ALA INS
TRP369TER;
ASN51HIS
7p15-p14.2 #176305 PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS
7p15-p14.2 #140000 HAND-FOOT-UTERUS SYNDROME
HOXA2 7p15-p14 *604685 MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE
GLN186LYS
7p15-p14 #612290 MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE
HOXA3 7p15-p14.2 *142954 HOMEOBOX A3; HOXA3
HOXA4 7p15-p14.2 *142953 HOMEOBOX A4; HOXA4
HOXA5 7p15-p14.2 *142952 HOMEOBOX A5; HOXA5
HOXA6 7p15-p14.2 *142951 HOMEOBOX A6; HOXA6
HOXA7 7p15-p14.2 *142950 HOMEOBOX A7; HOXA7
HOXA9 7p15-p14.2 *142956 HOMEOBOX A9; HOXA9
HOXB1 17q21-q22 *142968 HOMEOBOX B1; HOXB1
HOXB13 17q21.2 *604607 HOMEOBOX B13; HOXB13
HOXB2 17q21-q22 *142967 HOMEOBOX B2; HOXB2
HOXB3 17q21-q22 *142966 HOMEOBOX B3; HOXB3
HOXB4 17q21-q22 *142965 HOMEOBOX B4; HOXB4
HOXB5 17q21-q22 *142960 HOMEOBOX B5; HOXB5
HOXB6 17q21-q22 *142961 HOMEOBOX B6; HOXB6
HOXB7 17q21-q22 *142962 HOMEOBOX B7; HOXB7
HOXB8 17q21-q22 *142963 HOMEOBOX B8; HOXB8
HOXB9 17q21-q22 *142964 HOMEOBOX B9; HOXB9
HOXC10 Chr.12 *605560 HOMEOBOX C10; HOXC10
HOXC11 Chr.12 *605559 HOMEOBOX C11; HOXC11
HOXC12 12q13 *142975 HOMEOBOX C12; HOXC12
HOXC13 12q13 *142976 HOMEOBOX C13; HOXC13
HOXC4 12q13 *142974 HOMEOBOX C4; HOXC4
HOXC5 12q13 *142973 HOMEOBOX 3D; HOX3D
HOXC6 12q13 *142972 HOMEOBOX C6; HOXC6
HOXC8 12q13 *142970 HOMEOBOX C8; HOXC8
HOXC9 12q13 *142971 HOMEOBOX C9; HOXC9
HOXD1 2q31-q32 *142987 HOMEOBOX D1; HOXD1
HOXD10 2q31-q32 +142984 VERTICAL TALUS, CONGENITAL HOXD10
MET319LYS
2q31-q32 #192950 VERTICAL TALUS, CONGENITAL; CVT
HOXD11 2q31-q32 *142986 HOMEOBOX D11; HOXD11
HOXD12 2q31-q32 *142988 HOMEOBOX D12; HOXD12
HOXD13 2q31-q32 *142989 SYNPOLYDACTYLY 1 27-BP DUP HOXD13
ARG298TRP
SYNDACTYLY, TYPE V 21-BP DUP
GLN317ARG
BRACHYDACTYLY-SYNDACTYLY SYNDROME 21-BP DEL
BRACHYDACTYLY, TYPE E
ILE314LEU;
SER308CYS
SYNPOLYDACTYLY WITH FOOT ANOMALIES 14-BP DEL, NT323;
1-BP DEL, 834G;
IVS1AS, 1-BP DEL, A, -2
2q31-q32 #113300 BRACHYDACTYLY, TYPE E; BDE
2q31-q32 #186000 SYNPOLYDACTYLY 1; SPD1
2q31-q32 #186300 SYNDACTYLY, TYPE V
2q31-q32 #610713 BRACHYDACTYLY-SYNDACTYLY SYNDROME
2q31-q32 #113200 BRACHYDACTYLY, TYPE D; BDD
HOXD3 2q31-q32 *142980 HOMEOBOX D3; HOXD3
HOXD4 2q31-q32 +142981 LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO
GLU81VAL
HOXD8 2q31-q32 *142985 HOMEOBOX D8; HOXD8
HOXD9 2q31-q32 *142982 HOMEOBOX D9; HOXD9
IRX1 5p15.3 *606197 IROQUOIS HOMEOBOX PROTEIN 1; IRX1
IRX2 5p15.3 *606198 IROQUOIS HOMEOBOX PROTEIN 2; IRX2
IRX4 5p15.3 *606199 IROQUOIS HOMEOBOX PROTEIN 4; IRX4
IRX5 16q11.2-q13 *606195 IROQUOIS HOMEOBOX PROTEIN 5; IRX5
IRX6 16q11.2-q13 *606196 IROQUOIS HOMEOBOX PROTEIN 6; IRX6
ISL1 5q *600366 ISL LIM HOMEOBOX 1; ISL1 ISL1
ISL2 *609481 ISL2 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL2
ISX 22q12.3 *612019 INTESTINE-SPECIFIC HOMEOBOX; ISX
LASS2 1q11 *606920 LAG1, S. CEREVISIAE, HOMOLOG OF, 2; LASS2
LBX1 10q24 *604255 LADY BIRD LATE, DROSOPHILA, HOMOLOG OF, 1
LBX2 2p13 *607164 LADY BIRD-LIKE HOMEOBOX 2; LBX2
LHX1 11p13-p12 *601999 LIM HOMEOBOX GENE 1; LHX1
LHX2 9q33-q34.1 *603759 LIM HOMEOBOX GENE 2; LHX2
LHX3 9q34.3 *600577 PITUITARY HORMONE DEFICIENCY, COMBINED, WITH RIGID CERVICAL SPINE 23-BP DEL;
1-BP DEL, 159T;
DEL		 LHX3
ALA210VAL;
GLU17TER;
TYR116CYS
PITUITARY HORMONE DEFICIENCY, COMBINED
TRP224TER
9q34.3 #262600 PITUITARY DWARFISM III
LHX4 1q25 *602146 SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA IVS5, G-C, -1 LHX4
1q25 #606606 SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA
LHX5 12q24.31-q24.32 *605992 LIM HOMEOBOX PROTEIN 5; LHX5
LHX6 *608215 LIM HOMEOBOX GENE 6; LHX6
LHX8 1p31.1 *604425 LIM HOMEOBOX GENE 8; LHX8
LHX9 1q31-q32 *606066 LIM HOMEOBOX GENE 9; LHX9
LMX1A 1q22-q23 *600298 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, ALPHA; LMX1A
LMX1B 9q34.1 *602575 NAIL-PATELLA SYNDROME 1-BP INS, 713A;
2-BP DEL, 233TG;
672, G-A, +1;
672, G-T, +1;
17-BP DEL		 LMX1B
ASN246LYS;
ARG198TER;
CYS95PHE;
GLN59TER;
ARG208TER;
ARG200GLN;
ARG226TER
1q24.3-q25.2, 9q34.1, 2p22-p21 #137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A
9q34.1 #161200 NAIL-PATELLA SYNDROME; NPS
MEIS1 2p14-p13 *601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1
MEIS2 15q14-q25 *601740 MEIS1, MOUSE, HOMOLOG OF, 2; MEIS2
MEOX1 17q21 *600147 MESENCHYME HOMEOBOX 1; MEOX1
MEOX2 7p22.1-p21.3 *600535 MESENCHYME HOMEOBOX 2; MEOX2
MIXL1 1q42.1 *609852 MIX1 HOMEOBOX-LIKE PROTEIN 1; MIXL1
MNX1 7q36 *142994 CURRARINO SYNDROME 1-BP DEL, 652A;
1-BP DEL, 414C;
1-BP INS, 125C;
IVS2, A-G, -2;
IVS2, G-A, +1;
24-BP DEL/2-BP INS, NT577		 HLXB9
GLU261TER;
TYR166TER;
THR248SER;
GLU283TER
7q36 #176450 CURRARINO SYNDROME
MSX1 4p16.1 *142983 TOOTH AGENESIS, SELECTIVE, WITH OR WITHOUT OROFACIAL CLEFT MSX1
SER105TER
WITKOP SYNDROME
SER202TER
OROFACIAL CLEFT 5
GLU78VAL;
GLY116GLU;
PRO147GLN
TOOTH AGENESIS, SELECTIVE, 1 1-BP DUP, 62G
ARG31PRO;
GLN187TER;
MET6LYS
4p16.1 #608874 OROFACIAL CLEFT 5
14q12-q13, 4p16.1 #106600 TOOTH AGENESIS, SELECTIVE, 1; STHAG1
4p16.1 #189500 WITKOP SYNDROME
MSX2 5q34-q35 *123101 CRANIOSYNOSTOSIS, TYPE 2 MSX2
PRO148HIS
PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA 4-BP DUP, NT505
PARIETAL FORAMINA 1 6-BP DEL, NT475;
206-KB DEL;
8-BP DEL, NT548
ARG172HIS;
ALA89TER;
TRP115TER
5q34-q35 #168500 PARIETAL FORAMINA; PFM
5q34-q35 #604757 CRANIOSYNOSTOSIS, TYPE 2; CRS2
5q34-q35 #168550 PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD
NANOG *607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG
NKX2-1 14q13 *600635 CHOREOATHETOSIS, CONGENITAL HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS 1-BP INS, 255G;
IVS2AS, A-G		 TITF1
VAL45PHE;
GLU175TER
CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM 2-BP INS, 2595GG
CHOREA, BENIGN HEREDITARY 1.2-MB DEL;
1-BP DEL, 908G;
IVS2AS, A-T, -2
ARG243SER;
TRP238LEU;
GLN249TER
14q13 #118700 CHOREA, BENIGN HEREDITARY; BHC
14q13 #610978 CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS
NKX2-2 20p11 *604612 NK2 HOMEOBOX 2; NKX2-2
NKX2-3 10q24.2 *606727 NK2, DROSOPHILA, HOMOLOG OF, C; NKX2C
NKX2-4 20p11 *607808 NK2 HOMEOBOX 4; NKX2-4
NKX2-5 5q34 *600584 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, SOMATIC NKX2-5
ASP299GLY
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
ALA119SER;
ARG161PRO
ATRIOVENTRICULAR BLOCK, IDIOPATHIC SECOND-DEGREE IVS1DS, G-T, +1
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 7-BP DEL;
2-BP DEL, 223CG;
1-BP DEL, 262G
THR178MET;
GLN170TER;
GLN198TER;
ARG190CYS;
TYR256TER
TETRALOGY OF FALLOT
ARG25CYS;
GLU21GLN;
ARG216CYS;
ALA219VAL
5q34 #108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
19p12, 8q23, 5q34, multiple loci #187500 TETRALOGY OF FALLOT
NKX2-6 8p21 *611770 PERSISTENT TRUNCUS ARTERIOSUS
PHE151LEU
19p12, 8p21, 2q21.1, multiple loci #217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM
NKX2-8 14q12-q13 *603245 NK2 HOMEOBOX 8; NKX2-8
NKX3-1 8p21 *602041 NK3 HOMEOBOX 1; NKX3-1
NKX3-2 4p16.1 *602183 BAGPIPE HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; BAPX1
NKX6-1 4q21.2-q22 *602563 NK6, DROSOPHILA, HOMOLOG OF, 1; NKX6-1
NKX6-2 10q26 *605955 NK6, DROSOPHILA, HOMOLOG OF, 2; NKX6-2
NKX6-3 8p11.2 *610772 NK6 HOMEOBOX 3; NKX6-3
NOBOX 7q35 *610934 PREMATURE OVARIAN FAILURE 5
ARG355HIS
7q35 #611548 PREMATURE OVARIAN FAILURE 5; POF5
ONECUT1 15q21.1-q21.2 *604164 ONE CUT HOMEOBOX 1; ONECUT1
ONECUT2 18q21.1-q21.2 *604894 ONE CUT HOMEOBOX 2; ONECUT2
ONECUT3 *611294 ONE CUT HOMEOBOX 3; ONECUT3
OTP 5q13.3 *604529 ORTHOPEDIA, DROSOPHILA, HOMOLOG OF; OTP
OTX1 2p13 *600036 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 1; OTX1
OTX2 14q21-q22 *600037 MICROPHTHALMIA, SYNDROMIC 5 2-BP INS, 635GC;
1-BP DEL, 252C
ARG89GLY;
TYR179TER
14q21-q22 #610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5
PAX2 10q24.3-q25.1 *167409 RENAL HYPOPLASIA, ISOLATED 6-BP DEL;
1566C-A		 PAX2
RENAL-COLOBOMA SYNDROME WITH MACULAR ABNORMALITIES
ARG71THR
RENAL-COLOBOMA SYNDROME 1-BP DEL, NT1104;
1-BP INS, 619G;
22-BP DEL, NT674;
1-BP INS;
6-BP DUP, NT768;
1-BP DEL, G, EX2;
2-BP INS, 619GG;
1318C-T
GLY75SER
10q24.3-q25.1 #120330 PAPILLORENAL SYNDROME
PAX3 2q35 *606597 CRANIOFACIAL-DEAFNESS-HAND SYNDROME PAX3
ASN47LYS
WAARDENBURG SYNDROME, TYPE I 18-BP DEL, EX2;
14-BP DEL, EX2;
1-BP DEL;
2-BP DEL, CA, EX4
PRO50LEU
WAARDENBURG SYNDROME WITH MENINGOMYELOCELE 5-BP DEL, EX5
WAARDENBURG SYNDROME, TYPE III 13-BP DEL, NT384
SER84PHE;
ASN47HIS;
TYR90HIS
WAARDENBURG SYNDROME, TYPE II
GLY48ALA
REMOVED FROM DATABASE
2q35 #122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS
2q35 #148820 WAARDENBURG SYNDROME, TYPE III; WS3
1p36.2-p36.12, 13q14.1, 2q35 #268220 RHABDOMYOSARCOMA 2; RMS2
2q35 #193500 WAARDENBURG SYNDROME, TYPE I; WS1
PAX4 7q32 *167413 DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO PAX4
ARG133TRP;
ARG37TRP
DIABETES MELLITUS, TYPE 2
ARG121TRP
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IX IVS7, G-A, -1
ARG64TRP
7q32 #612225 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IX; MODY9
19q13.1-q13.2, 19p13.2, 17q25, multiple loci #125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
PAX5 9p13 *167414 PAIRED BOX GENE 5; PAX5
PAX6 11p13 *607108 FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES IVS4DS, G-C, +5 PAX6
KERATITIS, AUTOSOMAL DOMINANT IVS10AS, A-T, -2
ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY PAX6,
TRP257TER
PETERS ANOMALY
ARG26GLY;
VAL54ASP
ECTOPIA PUPILLAE
VAL126ASP
FOVEAL HYPOPLASIA, ISOLATED
ARG125CYS
OPTIC NERVE HYPOPLASIA, BILATERAL
GLN205TER
FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
GLY64VAL
ANIRIDIA 2-BP INS;
EXON G DEL;
IVS12DS, G-C, -1;
IVS11AS, A-G, -2
GLN116TER;
ARG103TER;
ARG203TER;
ARG240TER;
TER423LEU;
ARG24THR;
SER119ARG
CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
SER353TER
MORNING GLORY DISC ANOMALY
PRO68SER
OPTIC NERVE APLASIA, BILATERAL
THR391ALA
COLOBOMA OF OPTIC NERVE
PHE258SER
11p13 #148190 KERATITIS, HEREDITARY
#120430 COLOBOMA OF OPTIC NERVE
11p13 603807 PETERS ANOMALY WITH CATARACT
11p13 #106210 ANIRIDIA; AN
11p13 #136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
11p13 #129750 ECTOPIA PUPILLAE
11p13 #165550 OPTIC NERVE HYPOPLASIA, BILATERAL
11p13, 8q22.1, 7q36 #120200 COLOBOMA, OCULAR
PAX7 1p36.2-p36.12 *167410 PAIRED BOX GENE 7; PAX7
1p36.2-p36.12, 13q14.1, 2q35 #268220 RHABDOMYOSARCOMA 2; RMS2
PAX8 2q12-q14 *167415 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 PAX8
ARG108TER;
ARG31HIS;
LEU62ARG;
CYS57TYR;
SER54GLY;
GLN40PRO;
SER48PHE
PAX8 POLYMORPHISM
PHE329LEU
2q12-q14 #218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2
PBX1 1q23 *176310 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 1; PBX1
PBX2 6p21.3 *176311 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 2; PBX2
PBX3 9q33-q34 *176312 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 3; PBX3
PBX4 *608127 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 4; PBX4
PDX1 13q12.1 *600733 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV IPF1
GLU224LYS
DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO 3-BP INS, 243CCG
ASP76ASN;
GLN59LEU;
CYS18ARG;
ARG197HIS
PANCREATIC AGENESIS 1-BP DEL, FS123TER
GLU164ASP;
GLU178LYS
19q13.1-q13.2, 19p13.2, 17q25, multiple loci #125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
13q12.1 #260370 PANCREATIC AGENESIS, CONGENITAL
PHOX2A 11q13.3-q13.4 *602753 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 IVS1, G-A, +1;
IVS2, G-A, -1		 PHOX2A
ALA72VAL
11q13.3-q13.4 #602078 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2
PHOX2B 4p12 *603851 HIRSCHSPRUNG DISEASE, SHORT-SEGMENT 5-MB DEL PHOX2B
NEUROBLASTOMA, SUSCEPTIBILITY TO
GLY197ASP
NEUROBLASTOMA
ARG100LEU
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL ALA TRACT EXP;
1-BP INS, 618C;
37-BP DEL, NT722
HIRSCHSPRUNG DISEASE WITH NEUROBLASTOMA 1-BP DEL, 676G
ARG141GLY
10q11.2, 5p13.1-p12, 4p12, multiple loci #142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1
17q21.3, 1p36.2, 4p12 #256700 NEUROBLASTOMA
12q22-q23, 11p13, 10q11.2, multiple loci #209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF
PITX1 5q31 *602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1
PITX2 4q25-q26 *601542 PETERS ANOMALY IVS3AS, A-T, -2 PITX2
RING DERMOID OF CORNEA
ARG62HIS
IRIDOGONIODYSGENESIS, TYPE 2
ARG46TRP;
ARG70HIS
RIEGER SYNDROME, TYPE 1 IVS3DS, G-C, +5;
IVS3AS, A-G, -11;
21-BP DUP, NT713
LEU54GLN;
THR68PRO;
ARG91PRO;
TRP133TER;
VAL45LEU
4q25-q26 #180550 RING DERMOID OF CORNEA; RDC
4q25-q26 #137600 IRIDOGONIODYSGENESIS, TYPE 2; IRID2
4q25-q26 #180500 RIEGER SYNDROME, TYPE 1; RIEG1
PITX3 10q25 +602669 CATARACT, CONGENITAL PITX3
SER13ASN
CATARACT, POSTERIOR POLAR, 4 1-BP DEL, 650G
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 17-BP DUP, NT657
10q25 *610623 CATARACT, POSTERIOR POLAR, 4; CTPP4
10q25, 1p32 #107250 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD
PKNOX1 21q22.3 *602100 PBX/KNOTTED 1 HOMEOBOX 1; PKNOX1
POU1F1 3p11 +173110 PITUITARY HORMONE DEFICIENCY, COMBINED 1-BP DEL, 747A;
1-BP INS, 778A		 POU1F1
ARG172TER;
ARG271TRP;
ALA158PRO;
PRO24LEU;
ARG143GLN;
GLU250TER;
PHE135CYS;
PRO239SER;
TRP193ARG;
LYS145TER;
GLU230LYS;
ARG172GLN;
SER179ARG
POU2F1 1q22-q23 *164175 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 1; POU2F1
POU2F2 Chr.19 *164176 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 2; POU2F2
POU2F3 11q23.3 *607394 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 3; POU2F3
POU3F1 1p34.1 *602479 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 1; POU3F1
POU3F2 6q16 *600494 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 2; POU3F2
POU3F3 3p14.2 *602480 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 3; POU3F3
POU3F4 Xq21.1 *300039 DEAFNESS, X-LINKED 2; DFNX2 4-BP DEL;
C935T, ALA-VAL		 POU3F4
LEU298TER;
ASP215TER;
LYS202TER;
LEU317TRP;
LYS334GLU;
ARG330SER;
ARG323GLY
Xq21.1 #304400 DEAFNESS, X-LINKED 2; DFNX2
POU4F1 13q21.1-q22 *601632 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 1; POU4F1
POU4F2 4q31.2 *113725 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 2; POU4F2
POU4F3 5q31 *602460 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 15 8-BP DEL, EX2 POU4F3
LEU298PHE;
LEU223PRO
5q31 #602459 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 15; DFNA15
POU5F1 6p21.3 *164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1
POU6F2 7p14-p13 *609062 WILMS TUMOR, SUSCEPTIBILITY TO POU6F2
GLN184HIS
WILMS TUMOR 5 C-G, EXON 1C, 5-PRIME UTR
7p14-p13 #601583 WILMS TUMOR 5; WT5
PROP1 5q *601538 PITUITARY HORMONE DEFICIENCY, COMBINED 2-BP DEL, 301AG;
2-BP DEL, 149GA;
2-BP DEL, 296GA;
13-BP DEL, NT112;
1-BP DEL, 150A		 PROP1
ARG120CYS;
PHE117ILE;
PHE88SER;
ARG73HIS;
ARG73CYS;
ARG99TER;
ARG99GLU;
TRP194TER
PROX1 1q32.2-q32.3 *601546 PROSPERO-RELATED HOMEOBOX 1; PROX1
PRRX1 1q24 *167420 PAIRED-RELATED HOMEOBOX GENE 1; PRRX1
PRRX2 9q34.1 *604675 PAIRED-RELATED HOMEOBOX GENE 2; PRRX2
RAX 18q21.3 *601881 MICROPHTHALMIA, ISOLATED 3 RAX
GLN147TER;
ARG192GLU
18q21.3 #611038 MICROPHTHALMIA, ISOLATED 3; MCOP3
RAX2 19p13.3 +610362 CONE-ROD DYSTROPHY 11 6-BP INS
GLY137ARG
MACULAR DEGENERATION, AGE-RELATED, 6
ARG87GLN
19p13.3 #610381 CONE-ROD DYSTROPHY 11; CORD11
RHOXF1 Xq24 *300446 OVARY-, TESTIS-, AND EPIDIDYMIS-EXPRESSED GENE
RHOXF2 Xq24 *300447 HOMEOBOX PROTEIN, PEPP SUBFAMILY, 2
SATB1 3p23 *602075 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 1; SATB1
SATB2 2q33 *608148 CLEFT PALATE, ISOLATED, AND MENTAL RETARDATION
ARG239TER
17p12-p11.1, 2q33 #119540 CLEFT PALATE, ISOLATED; CPI
SEBOX 17q11.2 *610975 SKIN-, EMBRYO-, BRAIN-, AND OOCYTE-SPECIFIC HOMEOBOX
SHOX Xpter-p22.32 *312865 LANGER MESOMELIC DYSPLASIA DEL;
1-BP INS, 723C;
2-BP INS, 350AG;
1.1-MB DEL		 SHOX
ARG168TRP
LERI-WEILL DYSCHONDROSTEOSIS 1-BP DEL, 1272G
TYR199TER;
LEU132VAL;
ARG153LEU;
ARG173CYS;
GLU102TER;
TER293ARG
SHORT STATURE, IDIOPATHIC, X-LINKED
ARG195TER
Ypter-p11.2 *400020 SHORT STATURE HOMEOBOX, Y-LINKED; SHOXY
Xpter-p22.32 #300582 SHORT STATURE, IDIOPATHIC, X-LINKED; ISS
17q22-q24, 3q26.3, Ypter-p11.2 #604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL
Ypter-p11.2, Xpter-p22.32 #127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD
Ypter-p11.2, Xpter-p22.32 #249700 LANGER MESOMELIC DYSPLASIA
SHOX2 3q25-q26 *602504 SHORT STATURE HOMEOBOX 2; SHOX2
SIX1 14q23 *601205 BRANCHIOOTIC SYNDROME 3 SIX1
TYR129CYS;
ARG110TRP;
TRP122ARG
DEAFNESS, AUTOSOMAL DOMINANT 23 3-BP DEL, 397GGA
14q23 #605192 DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23
14q23 #608389 BRANCHIOOTIC SYNDROME 3; BOS3
SIX2 2p16-p15 *604994 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2; SIX2
SIX3 2p21 *603714 HOLOPROSENCEPHALY 2 2-BP INS, 557GG;
2-BP INS, 406GC		 SIX3
LEU226VAL;
ARG257PRO;
VAL250ALA;
GLY69ASP
2p21 #157170 HOLOPROSENCEPHALY 2; HPE2
SIX4 14q23 *606342 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 4; SIX4
SIX5 19q13.3 *600963 BRANCHIOOTORENAL SYNDROME 2 SIX5
ALA158THR;
ALA296THR;
GLY365ARG;
THR552MET
19q13.3 #610896 BRANCHIOOTORENAL SYNDROME 2; BOR2
SIX6 14q23 *606326 MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 SIX6
THR165ALA
14q23 #212550 MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2
TGIF1 18p11.3 *602630 HOLOPROSENCEPHALY 4 TGIF
SER28CYS;
PRO63ARG;
THR151ALA;
SER162PHE;
TYR59TER;
GLN107LEU
18p11.3, 18p11.32-p11.23 %605389 HYPOTRICHOSIS SIMPLEX
18p11.3 #142946 HOLOPROSENCEPHALY 4; HPE4
TGIF2 20q11.2-q12 *607294 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2; TGIF2
TGIF2LX Xp21.3 *300411 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2-LIKE, X-LINKED; TGIF2LX
TGIF2LY Yp11.2 *400025 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2-LIKE, Y-LINKED; TGIF2LY
TLX1 10q24 +186770 T-CELL LEUKEMIA, HOMEOBOX 1; TLX1
TLX2 2p13.1-p12 *604240 T-CELL LEUKEMIA, HOMEOBOX 2; TLX2
TLX3 5q35.1 *604640 T-CELL LEUKEMIA HOMEOBOX 3; TLX3
TPRX1 *611166 TETRAPEPTIDE REPEAT HOMEOBOX 1; TPRX1
TPRXL *611167 TETRAPEPTIDE REPEAT HOMEOBOX-LIKE; TPRXL
VAX1 10q26.1 *604294 VENTRAL ANTERIOR HOMEOBOX 1; VAX1
VAX2 2p13 *604295 VENTRAL ANTERIOR HOMEOBOX 2; VAX2
VENTX 10q26.3 *607158 VENT-LIKE HOMEOBOX 2; VENTX2
VSX1 20p11.2 *605020 KERATOCONUS 1
ARG166TRP;
LEU159MET;
LEU17PRO
CRANIOFACIAL ANOMALIES, EMPTY SELLA TURCICA, CORNEAL ENDOTHELIAL CHANGES, AND ABNORMAL RETINAL AND AUDITORY BIPOLAR CELLS
ALA256SER
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1
GLY160ASP
1p34.3-p32.3, 20p11.2 #122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1
20p11.2 #148300 KERATOCONUS 1; KTCN1
VSX2 14q24.3 *142993 MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES CHX10
ARG200GLN;
ARG200PRO
MICROPHTHALMIA, ISOLATED 2 4-KB DEL, EXON 3
ARG227TRP
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 IVS1, G-A, -1
14q24.3 #610092 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3
14q24.3 #610093 MICROPHTHALMIA, ISOLATED 2; MCOP2
ZEB1 10p11.2 *189909 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 2-BP DEL, 2916TG;
1350C-T
10p11.2 #609141 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3
ZEB2 2q22 *605802 HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME, LATE INFANTILE 3-BP DEL, 295AAC ZFHX1B
MOWAT-WILSON SYNDROME 4-BP DEL, NT1173;
1-BP INS, 1421A;
2-BP INS, 760CA;
1-BP INS, 2453T;
1-BP DEL, 1892A;
2-BP INS, 553TG;
2-BP INS, 3567CC;
300-KB DEL;
1-BP DEL, 1862T;
IVS1AS, G-A, -1
ARG549TER;
ARG695TER;
SER852TER;
GLN1119ARG
2q22 #235730 MOWAT-WILSON SYNDROME
ZFHX3 16q22.3-q23.1 *104155 PROSTATE CANCER 24-BP DEL, NT10814
19q, 17p11, 16q22.3-q23.1, multiple loci #176807 PROSTATE CANCER
ZFHX4 8q21.12 *606940 ZINC FINGER HOMEODOMAIN 4
ZHX1 8q *604764 ZINC FINGER AND HOMEODOMAIN PROTEIN 1; ZHX1
ZHX2 *609185 ZINC FINGER AND HOMEODOMAIN PROTEIN 2; ZHX2
ZHX3 20q12 *609598 ZINC FINGER AND HOMEODOMAIN PROTEIN 3; ZHX3