| 236730 |
236730 |
10.108 |
Urofacial syndrome (2) |
Urofacial syndrome (2) |
Urofacial syndrome (Ochoa syndrome) |
|
| 138130 |
138130 |
10.115 |
Hyperinsulinism-hyperammonemia syndrome (3) |
Hyperinsulinism-hyperammonemia syndrome (3) |
Glutamate dehydrogenase-1 |
pseudogene on Xq26-q28 |
| 601728 |
601728 |
10.119 |
Endometrial carcinoma (3) |
Cowden disease 158350 (3); Lhermitte-Duclos syndrome (3); |
Phosphatase and tensin homolog (mutated in multiple advanced cancers |
|
| 601728 |
601728 |
10.119 |
Cowden disease- 158350 (3) |
Cowden disease 158350 (3); Lhermitte-Duclos syndrome (3); |
Phosphatase and tensin homolog (mutated in multiple advanced cancers |
|
| 601728 |
601728 |
10.119 |
Lhermitte-Duclos syndrome (3) |
Cowden disease 158350 (3); Lhermitte-Duclos syndrome (3); |
Phosphatase and tensin homolog (mutated in multiple advanced cancers |
|
| 601728 |
601728 |
10.119 |
Bannayan-Zonana syndrome- 153480 (3) |
Cowden disease 158350 (3); Lhermitte-Duclos syndrome (3); |
Phosphatase and tensin homolog (mutated in multiple advanced cancers |
|
| 600512 |
600512 |
10.121 |
Epilepsy- partial (2) |
Epilepsy partial (2) |
Epilepsy partial |
|
| 157640 |
157640 |
10.124 |
PEO with mitochondrial DNA deletions- type 1 (2) |
PEO with mitochondrial DNA deletions type 1 (2) |
Progressive external ophthalmoplegia type 1 |
|
| 601107 |
601107 |
10.125 |
Dubin-Johnson syndrome- 237500 (3) |
Dubin-Johnson syndrome 237500 (3) |
ATP-binding cassette subfamily C member 2 |
|
| 602082 |
602082 |
10.127 |
Corneal dystrophy- Thiel-Behnke type (2) |
Corneal dystrophy Thiel-Behnke type (2) |
Corneal dystrophy Thiel-Behnke type |
|
| 601130 |
601130 |
10.129 |
Tolbutamide poor metabolizer (3) |
Tolbutamide poor metabolizer (3); Warfarin sensitivity 122700 (3) |
Cytochrome P450 subfamily IIC (mephenytoin 4-hydroxylase) |
|
| 186770 |
186770 |
10.132 |
Leukemia- T-cell acute lymphocytic (2) |
Leukemia T-cell acute lymphocytic (2) |
Homeo box-11 (T-cell leukemia-3 associated breakpoint homologous to |
t(7;10) or t(10;4) |
| 271245 |
271245 |
10.134 |
Spinocerebellar ataxia-8- infantile- with sensory neuropathy (2) |
Spinocerebellar ataxia infantile-onset with sensory neuropathy (2) |
Infantile-onset spinocerebellar ataxia |
|
| 180250 |
180250 |
10.141 |
Retinol binding protein- deficiency of (1) (?) |
Retinol binding protein deficiency of (3) |
Retinol-binding protein-4 interstitial |
just centromeric of CYP2C cluster |
| 600095 |
600095 |
10.142 |
Split hand/foot malformation- type 3 (2) |
Split hand/foot malformation type 3 (2) |
Split hand/foot malformation type 3 (dactylin) |
|
| 278000 |
278000 |
10.146 |
Cholesteryl ester storage disease (3) |
Wolman disease (3); Cholesteryl ester storage disease (3) |
Lipase A lysosomal acid cholesterol esterase |
?close to GOT |
| 278000 |
278000 |
10.146 |
Wolman disease (3) |
Wolman disease (3); Cholesteryl ester storage disease (3) |
Lipase A lysosomal acid cholesterol esterase |
?close to GOT |
| 134637 |
134637 |
10.156 |
{Autoimmune lymphoproliferative syndrome} (3) |
{Autoimmune lymphoproliferative syndrome} (3) |
Tumor necrosis factor receptor superfamily member 6 |
|
| 124020 |
124020 |
10.158 |
Mephenytoin poor metabolizer (3) |
Mephenytoin poor metabolizer (3) |
Cytochrome P450 subfamily IIC (mephenytoin 4'-hydroxylase) |
4 genes in order: cen-C18-C19-C9-C8-tel |
| 113811 |
113811 |
10.162 |
Epidermolysis bullosa- generalized atrophic benign- 226650 (3) |
Epidermolysis bullosa generalized atrophic benign 226650 (3) |
Collagen XVII alpha-1 polypeptide |
|
| 202110 |
202110 |
10.163 |
Adrenal hyperplasia- congenital- due to 17-alpha-hydroxylase deficiency (3) |
Adrenal hyperplasia congenital due to 17-alpha-hydroxylase |
Cytochrome P450 subfamily XVII (steroid 17-alpha-hydroxylase) |
at least 2 genes; distal to GOT1 |
| 138250 |
138250 |
10.164 |
P5CS deficiency (1) (?) |
?P5CS deficiency (1) |
Pyrroline-5-carboxlate synthetase |
GOT1 and GSAS in same pathway |
| 167409 |
167409 |
10.165 |
Optic nerve coloboma with renal disease- 120330 (3) |
Optic nerve coloboma with renal disease 120330 (3) |
Paired box homeotic gene-2 |
|
| 600020 |
600020 |
10.17 |
Prostate cancer- 176807 (3) |
Prostate cancer 176807 (3); Neurofibrosarcoma (3) |
MAX-interacting protein 1 |
|
| 602669 |
602669 |
10.171 |
Cataract- congenital (3) |
Anterior segment mesenchymal dysgenesis and cataract 107250 (3); |
Paired-like homeodomain transcription factor-3 |
|
| 602669 |
602669 |
10.171 |
Anterior segment mesenchymal dysgenesis and cataract- 107250 (3) |
Anterior segment mesenchymal dysgenesis and cataract 107250 (3); |
Paired-like homeodomain transcription factor-3 |
|
| 263700 |
263700 |
10.179 |
Porphyria- congenital erythropoietic (3) |
Porphyria congenital erythropoietic (3) |
Uroporphyrinogen III synthase |
|
| 147730 |
147730 |
10.18 |
Interleukin-2 receptor- alpha chain- deficiency of (3) |
Interleukin-2 receptor alpha chain deficiency of (3) |
Interleukin-2 receptor |
|
| 601969 |
601969 |
10.182 |
Glioblastoma multiforme- 137800 (3) |
Glioblastoma multiforme 137800 (3); Medulloblastoma 155255 (3) |
Deleted in malignant brain tumors 1 |
|
| 601969 |
601969 |
10.182 |
Medulloblastoma- 155255 (3) |
Glioblastoma multiforme 137800 (3); Medulloblastoma 155255 (3) |
Deleted in malignant brain tumors 1 |
|
| 602084 |
602084 |
10.185 |
Endometrial carcinoma (2) |
Endometrial carcinoma (2) |
Deleted in endometrial carcinoma |
|
| 176943 |
176943 |
10.187 |
Pfeiffer syndrome- 101600 (3) |
Crouzon syndrome 123500 (3); Jackson-Weiss syndrome 123150 (3); |
Fibroblast growth factor receptor-2 (bacteria-expressed kinase) |
|
| 176943 |
176943 |
10.187 |
Jackson-Weiss syndrome- 123150 (3) |
Crouzon syndrome 123500 (3); Jackson-Weiss syndrome 123150 (3); |
Fibroblast growth factor receptor-2 (bacteria-expressed kinase) |
|
| 176943 |
176943 |
10.187 |
Crouzon craniofacial dysostosis- 123500 (3) |
Crouzon syndrome 123500 (3); Jackson-Weiss syndrome 123150 (3); |
Fibroblast growth factor receptor-2 (bacteria-expressed kinase) |
|
| 176943 |
176943 |
10.187 |
Beare-Stevenson cutis gyrata syndrome- 123790 (3) |
Crouzon syndrome 123500 (3); Jackson-Weiss syndrome 123150 (3); |
Fibroblast growth factor receptor-2 (bacteria-expressed kinase) |
|
| 176943 |
176943 |
10.187 |
Apert syndrome- 101200 (3) |
Crouzon syndrome 123500 (3); Jackson-Weiss syndrome 123150 (3); |
Fibroblast growth factor receptor-2 (bacteria-expressed kinase) |
|
| 258870 |
258870 |
10.19 |
Gyrate atrophy of choroid and retina with ornithinemia- B6 responsive or unresponsive (3) |
Gyrate atrophy of choroid and retina with ornithinemia B6 |
Ornithine aminotransferase |
pseudogene at Xp11.2 |
| 600035 |
600035 |
10.194 |
Schizencephaly (3) |
Schizencephaly (3) |
Empty spiracles Drosophila homolog of 2 |
close to VAX1 |
| 246600 |
246600 |
10.195 |
Pancreatic lipase deficiency (1) |
Pancreatic lipase deficiency (1) |
Pancreatic lipase |
|
| 601362 |
601362 |
10.2 |
DiGeorge syndrome/velocardiofacial syndrome complex-2 (2) |
DiGeorge syndrome/velocardiofacial syndrome complex-2 (2) |
DiGeorge syndrome chromosome region-2 |
|
| 602026 |
602026 |
10.2 |
Refsum disease- 266500 (3) |
Refsum disease 266500 (3) |
Phytanoyl-CoA hydroxylase |
|
| 602083 |
602083 |
10.22 |
Usher syndrome- type IF (2) |
Usher syndrome type IF (2) |
Usher syndrome-1F autosomal recessive severe |
|
| 600964 |
600964 |
10.3 |
Refsum disease- adult- with increased pipecolicacidemia (2) |
Refsum disease adult with increased pipecolicacidemia (2) |
Refsum disease adult with increased pipecolicacidemia |
?relation to PHYH |
| 601942 |
601942 |
10.4 |
Insulin-dependent diabetes mellitus-10 (2) |
{Diabetes mellitus insulin-dependent 10} (2) |
Insulin-dependent diabetes mellitus-10 |
|
| 601188 |
601188 |
10.4 |
Prostate adenocarcinoma (2) |
Prostate adenocarcinoma (2) |
Suppression of tumorigenicity 12 prostate |
|
| 602450 |
602450 |
10.42 |
Severe combined immunodeficiency disease- Athabascan type (2) |
Severe combined immunodeficiency disease Athabascan type (2) |
Severe combined immunodeficiency disease Athabascan type |
|
| 601067 |
601067 |
10.44 |
Usher syndrome- type 1D (2) |
Usher syndrome type 1D (2) |
Usher syndrome-1D autosomal recessive severe |
between D10S529 and D10S573 |
| 133540 |
133540 |
10.45 |
Cockayne syndrome-2- late onset (2) |
Cockayne syndrome-2 type B (3); Cerebrooculofacioskeletal syndrome |
Excision repair cross complementing rodent repair deficiency |
|
| 600835 |
600835 |
10.48 |
{AIDS- resistance to} (3) |
{AIDS resistance to} (3) |
Stromal cell-derived factor 1 |
|
| 164761 |
164761 |
10.56 |
Hirschsprung disease- 142623 (3) |
Multiple endocrine neoplasia IIA 171400 (3); Medullary thyroid |
RET transforming sequence; oncogene RET |
|
| 164761 |
164761 |
10.56 |
Medullary thyroid carcinoma- 155240 (3) |
Multiple endocrine neoplasia IIA 171400 (3); Medullary thyroid |
RET transforming sequence; oncogene RET |
|
| 164761 |
164761 |
10.56 |
Multiple endocrine neoplasia IIA- 171400 (3) |
Multiple endocrine neoplasia IIA 171400 (3); Medullary thyroid |
RET transforming sequence; oncogene RET |
|
| 164761 |
164761 |
10.56 |
Multiple endocrine neoplasia IIB- 162300 (3) |
Multiple endocrine neoplasia IIA 171400 (3); Medullary thyroid |
RET transforming sequence; oncogene RET |
|
| 154545 |
154545 |
10.61 |
{Chronic infections- due to opsonin defect} (3) |
{Chronic infections due to opsonin defect} (3) |
Mannose-binding lectin 2 soluble (opsonic defect) |
near MEN2A |
| 601386 |
601386 |
10.7 |
Deafness- autosomal recessive 12 (2) |
Deafness autosomal recessive 12 (2) |
Deafness autosomal recessive 12 |
|
| 601493 |
601493 |
10.73 |
Cardiomyopathy- dilated 1C (2) |
Cardiomyopathy dilated 1C (2) |
Cardiomyopathy dilated-1C autosomal dominant |
|
| 129010 |
129010 |
10.77 |
Neuropathy- congenital hypomyelinating- 1 (3) |
Neuropathy congenital hypomyelinating 1 605253 (3) |
KROX-20 Drosophila homolog of (early growth response-2) |
|
| 142600 |
142600 |
10.84 |
Hemolytic anemia due to hexokinase deficiency (3) |
Hemolytic anemia due to hexokinase deficiency (3) |
Hexokinase-1 |
10p11.2 conflicting assignment; ?2 loci on chr.10 |
| 250850 |
250850 |
10.86 |
Hypermethioninemia- persistent- autosomal dominant- due to methionine adenosyltransferase I/III deficiency (3) |
Hypermethioninemia persistent autosomal dominant due to |
Methionine adenosyltransferase I alpha |
|
| 126090 |
126090 |
10.88 |
Hyperphenylalaninemia due to pterin-4a-carbinolamine dehydratase deficiency- 264070 (3) |
Hyperphenylalaninemia due to pterin-4a-carbinolamine dehydratase |
Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic |
|
| 176801 |
176801 |
10.96 |
Metachromatic leukodystrophy due to deficiency of SAP-1 (3) |
Metachromatic leukodystrophy due to deficiency of SAP-1 (3); |
Prosaposin (sphingolipid activator protein-1) |
|
| 176801 |
176801 |
10.96 |
Gaucher disease- variant form (3) |
Metachromatic leukodystrophy due to deficiency of SAP-1 (3); |
Prosaposin (sphingolipid activator protein-1) |
|
